{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA387550005", "communityStandardTitle": [ "NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2833532[alleleid]", "alleleId": 2833532, "preferredName": "NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678509", "RCV": [ "RCV003466319" ], "variationId": 2678509 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23929589G>A?assembly=hg19", "id": "chr13:g.23929589G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23355450G>A?assembly=hg38", "id": "chr13:g.23355450G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2542399227", "rs": 2542399227 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-23355450-G-A?dataset=gnomad_r4", "id": "13-23355450-G-A", "variant": "13:23355450 G / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 23355450, "referenceAllele": "G", "start": 23355449 } ], "hgvs": [ "NC_000013.11:g.23355450G>A", "CM000675.2:g.23355450G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 23929589, "referenceAllele": "G", "start": 23929588 } ], "hgvs": [ "NC_000013.10:g.23929589G>A", "CM000675.1:g.23929589G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 22827589, "referenceAllele": "G", "start": 22827588 } ], "hgvs": [ "NC_000013.9:g.22827589G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 83253, "referenceAllele": "C", "start": 83252 } ], "hgvs": [ "NG_012342.1:g.83253C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002379" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000682775.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000508399.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000508399.1:p.Gln388_Ser739delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyThrTrpIleThrTrpSerGlnArgArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827764" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000682944.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000507173.1:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827932" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683154.1:n.1300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828139" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683210.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000506739.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000506739.1:p.Gln388_Arg738delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGluIleProTrpThrAlaAlaArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828192" }, { "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "C", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683270.1:c.1153C>T" ], "proteinEffect": { "hgvs": "ENSP00000507624.1:p.Gln385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828251" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683367.1:c.1153C>T" ], "proteinEffect": { "hgvs": "ENSP00000507780.1:p.Gln385Ter", "hgvsWellDefined": "ENSP00000507780.1:p.Gln385_Cys747delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828347" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683489.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000508403.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000508403.1:p.Gln388_Gln763delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828463" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683680.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000507223.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000507223.1:p.Gln388_Gln772delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGlnGlnGlnLeuTrpGlyTyrSerGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828651" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684163.1:c.1153C>T" ], "proteinEffect": { "hgvs": "ENSP00000508262.1:p.Gln385Ter", "hgvsWellDefined": "ENSP00000508262.1:p.Gln385_Cys756delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGlnGlnGlnLeuTrpGlyTyrSerGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829121" }, { "coordinates": [ { "allele": "T", "end": 3519, "referenceAllele": "C", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684196.1:n.3519C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829154" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684325.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000508121.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000508121.1:p.Gln388_Ala729delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829280" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684385.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000507855.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000507855.1:p.Gln388_Phe830delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyIleIleHisAsnAsnAsnSerGlyAspIleGlnAlaSerCysLeuMetLysIleAlaThrGluAsnSerLysTrpTrpGlnPheLeuLeuProValValSerIleValSerGlyAsnCysLeuProArgGlnHisLeuLeuThrValArgThrLeuAlaLeuCysLeuCysValHisIlePheHisLysCysTyrAsnLeuTyrSerValValGluGlnAspAlaIlePheCysCysLeuLysValLeuGlnLeuLysLysLysGlnProPheLeuSerIleTrpHisValValGluPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829340" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684497.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000507057.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000507057.1:p.Gln388_Thr738delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaHisSerProGlyValTrpArgCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829451" }, { "coordinates": [ { "allele": "T", "end": 1751, "referenceAllele": "C", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382292.9:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000371729.3:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752641", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.1162C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Gln388Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Gln388Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.2:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.2:p.Gln388Ter", "hgvsWellDefined": "ENSP00000390925.2:p.Gln388_Cys750delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754964" }, { "coordinates": [ { "allele": "T", "end": 1750, "referenceAllele": "C", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.6:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000406565.2:p.Gln388Ter", "hgvsWellDefined": "ENSP00000406565.2:p.Gln388_Cys832delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTrpTyrProPheAspGluAsnArgAsnHisProSerValSerTrpLeuLysMetValTrpLysAsnLeuTyrIleHisPheSerGluAspLeuThrLeuPheAspGluMetProLeuIleProArgThrIleLeuGluGluGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756513" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382292.7:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000371729.3:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS273693" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382298.7:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000371735.3:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.-1089C>T" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:n.-1089C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 34, "referenceAllele": "C", "start": 33 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.34C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:p.Gln12Ter", "hgvsWellDefined": "ENSP00000390925.1:p.Gln12_Cys374delinsLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.721C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln241Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.1162C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Gln396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.1153C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.1162C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.1153C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.1153C>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Gln385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.1162C>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "coordinates": [ { "allele": "T", "end": 1751, "referenceAllele": "C", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln388Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.1162C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Gln388Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Gln388Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.721C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln241Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }