{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393490408", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=303205", "active": true, "id": "COSM303205" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1315334[alleleid]", "alleleId": 1315334, "preferredName": "NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1325072", "RCV": [ "RCV001783749" ], "variationId": 1325072 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75684631G>A?assembly=hg19", "id": "chr15:g.75684631G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75392290G>A?assembly=hg38", "id": "chr15:g.75392290G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "T", "end": 3104, "referenceAllele": "C", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.2803C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.2803C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "T", "end": 3062, "referenceAllele": "C", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.2803C>T" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Arg935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889813", "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg935Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890178", "coordinates": [ { "allele": "T", "end": 3160, "referenceAllele": "C", "start": 3159 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg935Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA2573091973", "coordinates": [ { "allele": "T", "end": 3062, "referenceAllele": "C", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg935Ter", "hgvsWellDefined": "NP_056292.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "T", "end": 2864, "referenceAllele": "C", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "T", "end": 3258, "referenceAllele": "C", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "T", "end": 3048, "referenceAllele": "C", "start": 3047 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "T", "end": 3258, "referenceAllele": "C", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "T", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg935Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 2999, "referenceAllele": "C", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Arg935Ter", "hgvsWellDefined": "XP_024305664.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889813", "coordinates": [ { "allele": "T", "end": 3017, "referenceAllele": "C", "start": 3016 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg935Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890178", "coordinates": [ { "allele": "T", "end": 3104, "referenceAllele": "C", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg935Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.2803C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.2803C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Arg935Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Arg935Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573091973", "coordinates": [ { "allele": "T", "end": 3167, "referenceAllele": "C", "start": 3166 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.2803C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg935Ter", "hgvsWellDefined": "NP_056292.1:p.Arg935_Pro1273delinsAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }