{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA011496", "communityStandardTitle": [ "NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=27170", "active": true, "id": "COSM27170" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32126[alleleid]", "alleleId": 32126, "preferredName": "NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17087", "RCV": [ "RCV000202205", "RCV000075801", "RCV000115485", "RCV000524311", "RCV001093685", "RCV001249951", "RCV001267883", "RCV003137535", "RCV003149572", "RCV000018616" ], "variationId": 17087 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-37053589-C-T", "id": "3-37053589-C-T", "variant": "3:37053589 C / T" } ], "MyVariantInfo_hg19": [ { "@id": 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"T", "end": 37053589, "referenceAllele": "C", "start": 37053588 } ], "hgvs": [ "NC_000003.11:g.37053589C>T", "CM000665.1:g.37053589C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 37028593, "referenceAllele": "C", "start": 37028592 } ], "hgvs": [ "NC_000003.10:g.37028593C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 23749, "referenceAllele": "C", "start": 23748 } ], "hgvs": [ "NG_007109.2:g.23749C>T", "LRG_216:g.23749C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.676C>T" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Arg226Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Arg226_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Arg128Ter", "hgvsWellDefined": 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"MLH1", "hgvs": [ "NM_001354618.2:c.-48C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-48C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-48C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-48C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894168", "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Arg128Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-141C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-141C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-254C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-254C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-254C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-254C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-151C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "T", "end": 604, "referenceAllele": "C", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-151C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-151C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-151C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906787", "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.676C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Arg226Ter", "hgvsWellDefined": "NP_001341557.1:p.Arg226_Cys725delinsGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909090", "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Arg193Ter", "hgvsWellDefined": "NP_001341558.1:p.Arg193_Cys723delinsGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA916038772", "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.676C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Arg226Ter", "hgvsWellDefined": "NP_001341559.1:p.Arg226_Cys701delinsGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }