{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602587", "communityStandardTitle": [ "NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=20417", "active": true, "id": "COSM20417" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363008[alleleid]", "alleleId": 363008, "preferredName": "NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376129", "RCV": [ "RCV000420146", "RCV000418200", "RCV000424789", "RCV000431294", "RCV000428450", "RCV000435047", "RCV000437777", "RCV000441543", "RCV000477715", "RCV001836814" ], "variationId": 376129 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11184573G>T?assembly=hg19", "id": "chr1:g.11184573G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11124516G>T?assembly=hg38", "id": "chr1:g.11124516G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777894", "rs": 587777894 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11124516, "referenceAllele": "G", "start": 11124515 } ], "hgvs": [ "NC_000001.11:g.11124516G>T", "CM000663.2:g.11124516G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11184573, "referenceAllele": "G", "start": 11184572 } ], "hgvs": [ "NC_000001.10:g.11184573G>T", "CM000663.1:g.11184573G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11107160, "referenceAllele": "G", "start": 11107159 } ], "hgvs": [ "NC_000001.9:g.11107160G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 143036, "referenceAllele": "C", "start": 143035 } ], "hgvs": [ "NG_033239.1:g.143036C>A", "LRG_734:g.143036C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6627, "referenceAllele": "C", "start": 6626 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703118.1:c.*2019C>A" ], "proteinEffect": { "hgvs": "ENSP00000515181.1:n.*2019C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911543" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703131.1:n.2645C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911553" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703139.1:c.1281C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911559" }, { "coordinates": [ { "allele": "A", "end": 6531, "referenceAllele": "C", "start": 6530 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703140.1:c.6431C>A" ], "proteinEffect": { "hgvs": "ENSP00000515197.1:p.Ser2144Tyr", "hgvsWellDefined": "ENSP00000515197.1:p.Ser2144Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911560" }, { "coordinates": [ { "allele": "A", "end": 7059, "referenceAllele": "C", "start": 7058 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703141.1:c.*2161C>A" ], "proteinEffect": { "hgvs": "ENSP00000515198.1:n.*2161C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911561" }, { "coordinates": [ { "allele": "A", "end": 6558, "referenceAllele": "C", "start": 6557 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000703142.1:c.*3474C>A" ], "proteinEffect": { "hgvs": "ENSP00000515199.1:n.*3474C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911562" }, { "coordinates": [ { "allele": "A", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000361445.9:c.6644C>A" ], "proteinEffect": { "hgvs": "ENSP00000354558.4:p.Ser2215Tyr", "hgvsWellDefined": "ENSP00000354558.4:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749472", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361445.9:c.6644C>A" }, "RefSeq": { "hgvs": "NM_004958.4:c.6644C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354558.4:p.Ser2215Tyr" }, "RefSeq": { "hgvs": "NP_004949.1:p.Ser2215Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 6721, "referenceAllele": "C", "start": 6720 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000361445.8:c.6644C>A" ], "proteinEffect": { "hgvs": "ENSP00000354558.4:p.Ser2215Tyr", "hgvsWellDefined": "ENSP00000354558.4:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265486" }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "ENST00000376838.5:c.1259C>A" ], "proteinEffect": { "hgvs": "ENSP00000366034.1:p.Ser420Tyr", "hgvsWellDefined": "ENSP00000366034.1:p.Ser420Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS271340" }, { "@id": "http://reg.genome.network/allele/PA645495214", "coordinates": [ { "allele": "A", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_004958.3:c.6644C>A", "LRG_734t1:c.6644C>A" ], "proteinEffect": { "hgvs": "NP_004949.1:p.Ser2215Tyr", "hgvsWellDefined": "NP_004949.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS030090" }, { "coordinates": [ { "allele": "A", "end": 6798, "referenceAllele": "C", "start": 6797 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_005263438.1:c.6644C>A" ], "proteinEffect": { "hgvs": "XP_005263495.1:p.Ser2215Tyr", "hgvsWellDefined": "XP_005263495.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS063807" }, { "coordinates": [ { "allele": "A", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XR_244786.1:n.6765C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116829" }, { "coordinates": [ { "allele": "A", "end": 6772, "referenceAllele": "C", "start": 6771 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_005263438.2:c.6644C>A" ], "proteinEffect": { "hgvs": "XP_005263495.1:p.Ser2215Tyr", "hgvsWellDefined": "XP_005263495.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535673" }, { "coordinates": [ { "allele": "A", "end": 6228, "referenceAllele": "C", "start": 6227 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_017000900.1:c.5963C>A" ], "proteinEffect": { "hgvs": "XP_016856389.1:p.Ser1988Tyr", "hgvsWellDefined": "XP_016856389.1:p.Ser1988Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557168" }, { "coordinates": [ { "allele": "A", "end": 6516, "referenceAllele": "C", "start": 6515 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_017000901.1:c.5396C>A" ], "proteinEffect": { "hgvs": "XP_016856390.1:p.Ser1799Tyr", "hgvsWellDefined": "XP_016856390.1:p.Ser1799Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557169" }, { "coordinates": [ { "allele": "A", "end": 7467, "referenceAllele": "C", "start": 7466 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XM_024446187.1:c.6644C>A" ], "proteinEffect": { "hgvs": "XP_024301955.1:p.Ser2215Tyr", "hgvsWellDefined": "XP_024301955.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS579861" }, { "coordinates": [ { "allele": "A", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "XR_001737087.1:n.6765C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587907" }, { "@id": "http://reg.genome.network/allele/PA645495214", "coordinates": [ { "allele": "A", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_004958.4:c.6644C>A" ], "proteinEffect": { "hgvs": "NP_004949.1:p.Ser2215Tyr", "hgvsWellDefined": "NP_004949.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361445.9:c.6644C>A" }, "RefSeq": { "hgvs": "NM_004958.4:c.6644C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354558.4:p.Ser2215Tyr" }, "RefSeq": { "hgvs": "NP_004949.1:p.Ser2215Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 6792, "referenceAllele": "C", "start": 6791 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_001386500.1:c.6644C>A" ], "proteinEffect": { "hgvs": "NP_001373429.1:p.Ser2215Tyr", "hgvsWellDefined": "NP_001373429.1:p.Ser2215Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS724534" }, { "coordinates": [ { "allele": "A", "end": 6656, "referenceAllele": "C", "start": 6655 } ], "gene": "http://reg.genome.network/gene/GN003942", "geneNCBI_id": 2475, "geneSymbol": "MTOR", "hgvs": [ "NM_001386501.1:c.5396C>A" ], "proteinEffect": { "hgvs": "NP_001373430.1:p.Ser1799Tyr", "hgvsWellDefined": "NP_001373430.1:p.Ser1799Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS724535" } ], "type": "nucleotide" }