{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350497238", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059169[alleleid]", "alleleId": 1059169, "preferredName": "NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074524", "RCV": [ "RCV001387850" ], "variationId": 1074524 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217279836C>T?assembly=hg19", "id": "chr2:g.217279836C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216415113C>T?assembly=hg38", "id": "chr2:g.216415113C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1271242899", "rs": 1271242899 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-216415113-C-T?dataset=gnomad_r3", "id": "2-216415113-C-T", "variant": "2:216415113 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-216415113-C-T?dataset=gnomad_r4", "id": "2-216415113-C-T", "variant": "2:216415113 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 216415113, "referenceAllele": "C", "start": 216415112 } ], "hgvs": [ "NC_000002.12:g.216415113C>T", "CM000664.2:g.216415113C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 217279836, "referenceAllele": "C", "start": 217279835 } ], "hgvs": [ "NC_000002.11:g.217279836C>T", "CM000664.1:g.217279836C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 216988081, "referenceAllele": "C", "start": 216988080 } ], "hgvs": [ "NC_000002.10:g.216988081C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 7700, "referenceAllele": "C", "start": 7699 } ], "hgvs": [ "NG_009771.1:g.7700C>T", "LRG_108:g.7700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001631" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000425815.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000394410.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000394410.2:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904799" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000405077.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000405077.2:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904832" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000444508.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000398969.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000398969.2:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904940" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697898.1:n.770C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909056" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697899.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513470.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513470.1:p.Gln137_Leu876delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909057" }, { "coordinates": [ { "allele": "T", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697900.1:n.685C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909058" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697901.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513471.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513471.1:p.Gln137_Gln381delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909059" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697902.1:n.641C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909060" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697903.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513472.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513472.1:p.Gln137_Leu453delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909061" }, { "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697904.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513473.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513473.1:p.Gln137_Leu453delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909062" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697905.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513474.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513474.1:p.Gln137_Leu453delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909063" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697906.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513475.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513475.1:p.Gln137_Leu876delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909064" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697907.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000513476.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000513476.1:p.Gln137_Gln381delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909065" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.9:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln137Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.409C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.409C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln137Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln137Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln137Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Gln137Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "T", "end": 1, "referenceAllele": "C", "start": 0 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000392128.6:c.1C>T" ], "proteinEffect": { "hgvs": "ENSP00000375974.2:p.Gln1Ter", "hgvsWellDefined": "ENSP00000375974.2:p.Gln1_Leu796delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274936" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000427645.5:c.106C>T" ], "proteinEffect": { "hgvs": "ENSP00000392997.1:p.Gln36Ter", "hgvsWellDefined": "ENSP00000392997.1:p.Gln36_Val326del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289800" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.5:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000405077.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000405077.1:p.Gln137_Gly146del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291115" }, { "@id": "http://reg.genome.network/allele/PA2825629503", "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln137Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA2499277733", "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.409C>T", "LRG_108t1:c.409C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln137Ter", "hgvsWellDefined": "NP_054859.2:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.409C>T" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Gln137Ter", "hgvsWellDefined": "XP_005246688.1:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln137Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Gln137Ter", "hgvsWellDefined": "XP_006712620.1:p.Gln137_Leu932delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.409C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln137Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.-508C>T" ], "proteinEffect": { "hgvs": "XP_016859717.1:n.-508C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825629503", "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln137Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA2499277733", "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.409C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln137Ter", "hgvsWellDefined": "NP_054859.2:p.Gln137_Leu954delinsLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.409C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.409C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln137Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln137Ter" } } } } ], "type": "nucleotide" }