{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352059785", "communityStandardTitle": [ "NM_000249.4(MLH1):c.1A>T (p.Met1Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1245629[alleleid]", "alleleId": 1245629, "preferredName": "NM_000249.4(MLH1):c.1A>T (p.Met1Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1255698", "RCV": [ "RCV001644559", "RCV002421236" ], "variationId": 1255698 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37035039A>T?assembly=hg19", "id": "chr3:g.37035039A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.36993548A>T?assembly=hg38", "id": "chr3:g.36993548A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587778967", "rs": 587778967 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 36993548, "referenceAllele": "A", "start": 36993547 } ], "hgvs": [ "NC_000003.12:g.36993548A>T", "CM000665.2:g.36993548A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 37035039, "referenceAllele": "A", "start": 37035038 } ], "hgvs": [ "NC_000003.11:g.37035039A>T", "CM000665.1:g.37035039A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 37010043, "referenceAllele": "A", "start": 37010042 } ], "hgvs": [ "NC_000003.10:g.37010043A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 5199, "referenceAllele": "A", "start": 5198 } ], "hgvs": [ "NG_007109.2:g.5199A>T", "LRG_216:g.5199A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" }, { "coordinates": [ { "allele": "A", "end": 4757, "referenceAllele": "T", "start": 4756 } ], "hgvs": [ "NG_008418.1:g.4757T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001090" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 192, "referenceAllele": "A", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Met1Leu", "hgvsWellDefined": "ENSP00000416476.2:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Met1Leu", "hgvsWellDefined": "ENSP00000393006.2:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Met1Leu", "hgvsWellDefined": "ENSP00000416687.3:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Met1Leu", "hgvsWellDefined": "ENSP00000411066.2:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "T", "end": 77, "referenceAllele": "A", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Met1Leu", "hgvsWellDefined": "ENSP00000480669.3:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "A", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Met1Leu", "hgvsWellDefined": "ENSP00000500979.2:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Met1Leu", "hgvsWellDefined": "ENSP00000231790.3:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.1A>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.1A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Met1Leu" }, "RefSeq": { "hgvs": "NP_000240.1:p.Met1Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 25, "referenceAllele": "A", "start": 24 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000416783.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "T", "end": 16, "referenceAllele": "A", "start": 15 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.16A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "T", "end": 32, "referenceAllele": "A", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.32A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "T", "end": 26, "referenceAllele": "A", "start": 25 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501301.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "T", "end": 18, "referenceAllele": "A", "start": 17 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501109.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "T", "end": 60, "referenceAllele": "A", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501030.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "T", "end": 10, "referenceAllele": "A", "start": 9 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501304.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "T", "end": 34, "referenceAllele": "A", "start": 33 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501281.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "T", "end": 54, "referenceAllele": "A", "start": 53 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000501162.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "A", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Met1Leu", "hgvsWellDefined": "ENSP00000231790.2:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "T", "end": 25, "referenceAllele": "A", "start": 24 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000416783.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS292022" }, { "coordinates": [ { "allele": "T", "end": 16, "referenceAllele": "A", "start": 15 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000387511.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000387511.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS296790" }, { "coordinates": [ { "allele": "T", "end": 15, "referenceAllele": "A", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000454028.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000392649.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000392649.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS302384" }, { "coordinates": [ { "allele": "T", "end": 33, "referenceAllele": "A", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000457004.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000407773.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000407773.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS303743" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.-632A>T" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:n.-632A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "@id": "http://reg.genome.network/allele/PA658697817", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.1A>T", "LRG_216t1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Met1Leu", "hgvsWellDefined": "NP_000240.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826456369", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Met1Leu", "hgvsWellDefined": "NP_001245200.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.-632A>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-632A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "coordinates": [ { "allele": "T", "end": 89, "referenceAllele": "A", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.1A>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Met1Leu", "hgvsWellDefined": "XP_005265218.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "T", "end": 57, "referenceAllele": "A", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.-718A>T" ], "proteinEffect": { "hgvs": "XP_005265221.1:n.-718A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.-516A>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:n.-516A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.-945A>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-945A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.-858A>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-858A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.-1095A>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-1095A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.-626A>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-626A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.-626A>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-626A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.-718A>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-718A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.-950A>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-950A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.-1074A>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-1074A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.-284A>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:n.-284A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-1043A>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-1043A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-1156A>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-1156A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-1065A>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-1065A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-826A>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-826A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-724A>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-724A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-821A>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-821A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-1053A>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-1053A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827905884", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Met1Leu", "hgvsWellDefined": "NP_001341557.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827908400", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Met1Leu", "hgvsWellDefined": "NP_001341558.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA916038531", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Met1Leu", "hgvsWellDefined": "NP_001341559.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "T", "end": 62, "referenceAllele": "A", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.1A>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Met1Leu", "hgvsWellDefined": "XP_005265218.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "A", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-811A>T" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-811A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA658697817", "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.1A>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Met1Leu", "hgvsWellDefined": "NP_000240.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.1A>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.1A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Met1Leu" }, "RefSeq": { "hgvs": "NP_000240.1:p.Met1Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.-516A>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:n.-516A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.-945A>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-945A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.-858A>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-858A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826456369", "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Met1Leu", "hgvsWellDefined": "NP_001245200.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.-632A>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-632A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.-1095A>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-1095A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.-626A>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-626A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.-626A>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-626A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.-718A>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-718A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.-950A>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-950A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-1074A>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-1074A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.-284A>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:n.-284A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-1043A>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-1043A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-1156A>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-1156A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-1065A>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-1065A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-826A>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-826A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-724A>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-724A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-821A>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-821A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-1053A>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-1053A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827905884", "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Met1Leu", "hgvsWellDefined": "NP_001341557.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827908400", "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Met1Leu", "hgvsWellDefined": "NP_001341558.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA916038531", "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "A", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Met1Leu", "hgvsWellDefined": "NP_001341559.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }