{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338383476", "communityStandardTitle": [ "NM_004958.4(MTOR):c.6981G>T (p.Met2327Ile)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4413485", "active": true, "id": "COSM4413485" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11177096C>A?assembly=hg19", "id": "chr1:g.11177096C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11117039C>A?assembly=hg38", "id": "chr1:g.11117039C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878855328", "rs": 878855328 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11117039, "referenceAllele": "C", "start": 11117038 } ], "hgvs": [ "NC_000001.11:g.11117039C>A", "CM000663.2:g.11117039C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11177096, "referenceAllele": "C", "start": 11177095 } ], "hgvs": [ "NC_000001.10:g.11177096C>A", "CM000663.1:g.11177096C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11099683, "referenceAllele": "C", "start": 11099682 } ], "hgvs": [ "NC_000001.9:g.11099683C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 150513, "referenceAllele": "G", "start": 150512 } ], "hgvs": [ "NG_033239.1:g.150513G>T", "LRG_734:g.150513G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6964, "referenceAllele": "G", "start": 6963 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703118.1:c.*2356G>T" ], "proteinEffect": { "hgvs": "ENSP00000515181.1:n.*2356G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911543" }, { "coordinates": [ { "allele": "T", "end": 2934, "endIntronDirection": "-", "endIntronOffset": 1570, "referenceAllele": "G", "start": 2934, "startIntronDirection": "-", "startIntronOffset": 1571 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703131.1:n.2935-1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911553" }, { "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703139.1:c.1769G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911559" }, { "coordinates": [ { "allele": "T", "end": 6868, "referenceAllele": "G", "start": 6867 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703140.1:c.6768G>T" ], "proteinEffect": { "hgvs": "ENSP00000515197.1:p.Met2256Ile", "hgvsWellDefined": "ENSP00000515197.1:p.Met2256Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS911560" }, { "coordinates": [ { "allele": "T", "end": 7396, "referenceAllele": "G", "start": 7395 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703141.1:c.*2498G>T" ], "proteinEffect": { "hgvs": "ENSP00000515198.1:n.*2498G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911561" }, { "coordinates": [ { "allele": "T", "end": 6895, "referenceAllele": "G", "start": 6894 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703142.1:c.*3811G>T" ], "proteinEffect": { "hgvs": "ENSP00000515199.1:n.*3811G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911562" }, { "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "G", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000361445.9:c.6981G>T" ], "proteinEffect": { "hgvs": "ENSP00000354558.4:p.Met2327Ile", "hgvsWellDefined": "ENSP00000354558.4:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS749472", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361445.9:c.6981G>T" }, "RefSeq": { "hgvs": "NM_004958.4:c.6981G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354558.4:p.Met2327Ile" }, "RefSeq": { "hgvs": "NP_004949.1:p.Met2327Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 7058, "referenceAllele": "G", "start": 7057 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000361445.8:c.6981G>T" ], "proteinEffect": { "hgvs": "ENSP00000354558.4:p.Met2327Ile", "hgvsWellDefined": "ENSP00000354558.4:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS265486" }, { "coordinates": [ { "allele": "T", "end": 2398, "referenceAllele": "G", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000376838.5:c.1596G>T" ], "proteinEffect": { "hgvs": "ENSP00000366034.1:p.Met532Ile", "hgvsWellDefined": "ENSP00000366034.1:p.Met532Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS271340" }, { "@id": "http://reg.genome.network/allele/PA645495217", "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "G", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_004958.3:c.6981G>T", "LRG_734t1:c.6981G>T" ], "proteinEffect": { "hgvs": "NP_004949.1:p.Met2327Ile", "hgvsWellDefined": "NP_004949.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS030090" }, { "coordinates": [ { "allele": "T", "end": 7135, "referenceAllele": "G", "start": 7134 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_005263438.1:c.6981G>T" ], "proteinEffect": { "hgvs": "XP_005263495.1:p.Met2327Ile", "hgvsWellDefined": "XP_005263495.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS063807" }, { "coordinates": [ { "allele": "T", "end": 7054, "endIntronDirection": "-", "endIntronOffset": 1570, "referenceAllele": "G", "start": 7054, "startIntronDirection": "-", "startIntronOffset": 1571 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XR_244786.1:n.7055-1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116829" }, { "coordinates": [ { "allele": "T", "end": 7109, "referenceAllele": "G", "start": 7108 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_005263438.2:c.6981G>T" ], "proteinEffect": { "hgvs": "XP_005263495.1:p.Met2327Ile", "hgvsWellDefined": "XP_005263495.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS535673" }, { "coordinates": [ { "allele": "T", "end": 6565, "referenceAllele": "G", "start": 6564 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_017000900.1:c.6300G>T" ], "proteinEffect": { "hgvs": "XP_016856389.1:p.Met2100Ile", "hgvsWellDefined": "XP_016856389.1:p.Met2100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS557168" }, { "coordinates": [ { "allele": "T", "end": 6853, "referenceAllele": "G", "start": 6852 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_017000901.1:c.5733G>T" ], "proteinEffect": { "hgvs": "XP_016856390.1:p.Met1911Ile", "hgvsWellDefined": "XP_016856390.1:p.Met1911Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS557169" }, { "coordinates": [ { "allele": "T", "end": 7804, "referenceAllele": "G", "start": 7803 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_024446187.1:c.6981G>T" ], "proteinEffect": { "hgvs": "XP_024301955.1:p.Met2327Ile", "hgvsWellDefined": "XP_024301955.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579861" }, { "coordinates": [ { "allele": "T", "end": 7054, "endIntronDirection": "-", "endIntronOffset": 1570, "referenceAllele": "G", "start": 7054, "startIntronDirection": "-", "startIntronOffset": 1571 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XR_001737087.1:n.7055-1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587907" }, { "@id": "http://reg.genome.network/allele/PA645495217", "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "G", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_004958.4:c.6981G>T" ], "proteinEffect": { "hgvs": "NP_004949.1:p.Met2327Ile", "hgvsWellDefined": "NP_004949.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS696284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361445.9:c.6981G>T" }, "RefSeq": { "hgvs": "NM_004958.4:c.6981G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354558.4:p.Met2327Ile" }, "RefSeq": { "hgvs": "NP_004949.1:p.Met2327Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 7129, "referenceAllele": "G", "start": 7128 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_001386500.1:c.6981G>T" ], "proteinEffect": { "hgvs": "NP_001373429.1:p.Met2327Ile", "hgvsWellDefined": "NP_001373429.1:p.Met2327Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS724534" }, { "coordinates": [ { "allele": "T", "end": 6993, "referenceAllele": "G", "start": 6992 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_001386501.1:c.5733G>T" ], "proteinEffect": { "hgvs": "NP_001373430.1:p.Met1911Ile", "hgvsWellDefined": "NP_001373430.1:p.Met1911Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS724535" } ], "type": "nucleotide" }