{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393499320", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1939342", "active": true, "id": "COSM1939342" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862555[alleleid]", "alleleId": 1862555, "preferredName": "NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805544", "RCV": [ "RCV002471962", "RCV002571474" ], "variationId": 1805544 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75694308G>A?assembly=hg19", "id": "chr15:g.75694308G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75401967G>A?assembly=hg38", "id": "chr15:g.75401967G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/971198723", "rs": 971198723 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75401967, "referenceAllele": "G", "start": 75401966 } ], "hgvs": [ "NC_000015.10:g.75401967G>A", "CM000677.2:g.75401967G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75694308, "referenceAllele": "G", "start": 75694307 } ], "hgvs": [ "NC_000015.9:g.75694308G>A", "CM000677.1:g.75694308G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 73481361, "referenceAllele": "G", "start": 73481360 } ], "hgvs": [ "NC_000015.8:g.73481361G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 58817, "referenceAllele": "C", "start": 58816 } ], "hgvs": [ "NG_052855.1:g.58817C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000564778.6:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000455204.2:p.Arg471Ter", "hgvsWellDefined": "ENSP00000455204.2:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905944" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000565264.2:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000454296.2:p.Arg471Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS905948" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704302.1:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000515826.1:p.Arg245Ter", "hgvsWellDefined": "ENSP00000515826.1:p.Arg245_Ile922delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProSerGluThrThrGluHisLeuCysMetTyrLeuThrAsnTrpAspGluTyrTyrAlaSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912227" }, { "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704304.1:c.*1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000515828.1:n.*1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912229" }, { "coordinates": [ { "allele": "T", "end": 1521, "referenceAllele": "C", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704305.1:c.1521C>T" ], "proteinEffect": { "hgvs": "ENSP00000515829.1:n.1521C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912230" }, { "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "C", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704310.1:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000515832.1:p.Arg471Ter", "hgvsWellDefined": "ENSP00000515832.1:p.Arg471_Pro1278delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysValSerTyrLeuGlnLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912233" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704311.1:c.191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS912234" }, { "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704312.1:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000515834.1:p.Arg471Ter", "hgvsWellDefined": "ENSP00000515834.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "T", "end": 1712, "referenceAllele": "C", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg471Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1411C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1411C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Arg471Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Arg471Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000360439.8:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000353622.4:p.Arg471Ter", "hgvsWellDefined": "ENSP00000353622.4:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg471Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Arg471Ter", "hgvsWellDefined": "ENSP00000378403.4:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889687", "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg471Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890060", "coordinates": [ { "allele": "T", "end": 1768, "referenceAllele": "C", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg471Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA2580397207", "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg471Ter", "hgvsWellDefined": "NP_056292.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "T", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "T", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg471Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 1607, "referenceAllele": "C", "start": 1606 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Arg471Ter", "hgvsWellDefined": "XP_024305664.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889687", "coordinates": [ { "allele": "T", "end": 1625, "referenceAllele": "C", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg471Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890060", "coordinates": [ { "allele": "T", "end": 1712, "referenceAllele": "C", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg471Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1411C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1411C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Arg471Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Arg471Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580397207", "coordinates": [ { "allele": "T", "end": 1775, "referenceAllele": "C", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg471Ter", "hgvsWellDefined": "NP_056292.1:p.Arg471_Pro1273delinsLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }