{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350500275", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=495123[alleleid]", "alleleId": 495123, "preferredName": "NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504092", "RCV": [ "RCV000599374", "RCV002498879" ], "variationId": 504092 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217297589C>T?assembly=hg19", "id": "chr2:g.217297589C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216432866C>T?assembly=hg38", "id": "chr2:g.216432866C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553526228", "rs": 1553526228 } ], "gnomAD_4": [ { "@id": 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"ENSP00000349823.4:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1483C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln495Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln495Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln495Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Gln495Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000392128.6:c.1075C>T" ], "proteinEffect": { "hgvs": "ENSP00000375974.2:p.Gln359Ter", "hgvsWellDefined": "ENSP00000375974.2:p.Gln359_Leu796delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274936" }, { "coordinates": [ { "allele": "T", "end": 156, "referenceAllele": "C", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000445153.1:c.156C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS298149" }, { "@id": "http://reg.genome.network/allele/PA2825629948", "coordinates": [ { "allele": "T", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln495Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA658807377", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.1483C>T", "LRG_108t1:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln495Ter", "hgvsWellDefined": "NP_054859.2:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "T", "end": 1751, "referenceAllele": "C", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Gln495Ter", "hgvsWellDefined": "XP_005246688.1:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln495Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "T", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Gln495Ter", "hgvsWellDefined": "XP_006712620.1:p.Gln495_Leu932delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "T", "end": 1744, "referenceAllele": "C", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln495Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "T", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.571C>T" ], "proteinEffect": { "hgvs": "XP_016859717.1:p.Gln191Ter", "hgvsWellDefined": "XP_016859717.1:p.Gln191_Leu650delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825629948", "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln495Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA658807377", "coordinates": [ { "allele": "T", "end": 1743, "referenceAllele": "C", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln495Ter", "hgvsWellDefined": "NP_054859.2:p.Gln495_Leu954delinsAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1483C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln495Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln495Ter" } } } } ], "type": "nucleotide" }