{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350497174", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2160670[alleleid]", "alleleId": 2160670, "preferredName": "NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2111849", "RCV": [ "RCV003046195" ], "variationId": 2111849 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217279809C>T?assembly=hg19", "id": "chr2:g.217279809C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216415086C>T?assembly=hg38", "id": "chr2:g.216415086C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/762590281", "rs": 762590281 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-216415086-C-T?dataset=gnomad_r4", "id": "2-216415086-C-T", "variant": "2:216415086 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 216415086, "referenceAllele": "C", "start": 216415085 } ], "hgvs": [ "NC_000002.12:g.216415086C>T", "CM000664.2:g.216415086C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 217279809, "referenceAllele": "C", "start": 217279808 } ], "hgvs": [ "NC_000002.11:g.217279809C>T", "CM000664.1:g.217279809C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 216988054, "referenceAllele": "C", "start": 216988053 } ], "hgvs": [ "NC_000002.10:g.216988054C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 7673, "referenceAllele": "C", "start": 7672 } ], "hgvs": [ "NG_009771.1:g.7673C>T", "LRG_108:g.7673C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001631" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000425815.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000394410.2:p.Gln128Ter", "hgvsWellDefined": "ENSP00000394410.2:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904799" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000405077.2:p.Gln128Ter", "hgvsWellDefined": "ENSP00000405077.2:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904832" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000444508.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000398969.2:p.Gln128Ter", "hgvsWellDefined": "ENSP00000398969.2:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904940" }, { "coordinates": [ { "allele": "T", "end": 743, "referenceAllele": "C", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697898.1:n.743C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909056" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697899.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513470.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513470.1:p.Gln128_Leu876delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909057" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697900.1:n.658C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909058" }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697901.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513471.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513471.1:p.Gln128_Gln381delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909059" }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "C", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697902.1:n.614C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909060" }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "C", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697903.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513472.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513472.1:p.Gln128_Leu453delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909061" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697904.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513473.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513473.1:p.Gln128_Leu453delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909062" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697905.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513474.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513474.1:p.Gln128_Leu453delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909063" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697906.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513475.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513475.1:p.Gln128_Leu876delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909064" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697907.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000513476.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000513476.1:p.Gln128_Gln381delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909065" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.9:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln128Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.382C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.382C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln128Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln128Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln128Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Gln128Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000427645.5:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000392997.1:p.Gln27Ter", "hgvsWellDefined": "ENSP00000392997.1:p.Gln27_Val326del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289800" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.5:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000405077.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000405077.1:p.Gln128_Gly146del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291115" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000444508.5:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000398969.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000398969.1:p.Gln128Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS297843" }, { "@id": "http://reg.genome.network/allele/PA2825629496", "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln128Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA2580368426", "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.382C>T", "LRG_108t1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln128Ter", "hgvsWellDefined": "NP_054859.2:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.382C>T" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Gln128Ter", "hgvsWellDefined": "XP_005246688.1:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln128Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Gln128Ter", "hgvsWellDefined": "XP_006712620.1:p.Gln128_Leu932delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.382C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln128Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.-535C>T" ], "proteinEffect": { "hgvs": "XP_016859717.1:n.-535C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825629496", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln128Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA2580368426", "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.382C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln128Ter", "hgvsWellDefined": "NP_054859.2:p.Gln128_Leu954delinsSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.382C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.382C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln128Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln128Ter" } } } } ], "type": "nucleotide" }