{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354362387", "communityStandardTitle": [ "NM_000388.4(CASR):c.209G>A (p.Trp70Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1166919[alleleid]", "alleleId": 1166919, "preferredName": "NM_000388.4(CASR):c.209G>A (p.Trp70Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1177515", "RCV": [ "RCV001535770", "RCV001873792", "RCV003399331" ], "variationId": 1177515 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.121975951G>A?assembly=hg19", "id": "chr3:g.121975951G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.122257104G>A?assembly=hg38", "id": "chr3:g.122257104G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2107627458", "rs": 2107627458 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 122257104, "referenceAllele": "G", "start": 122257103 } ], "hgvs": [ "NC_000003.12:g.122257104G>A", "CM000665.2:g.122257104G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 121975951, "referenceAllele": "G", "start": 121975950 } ], "hgvs": [ "NC_000003.11:g.121975951G>A", "CM000665.1:g.121975951G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 123458641, "referenceAllele": "G", "start": 123458640 } ], "hgvs": [ "NC_000003.10:g.123458641G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 78422, "referenceAllele": "G", "start": 78421 } ], "hgvs": [ "NG_009058.1:g.78422G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001400" }, { "coordinates": [ { "allele": "A", "end": 78437, "referenceAllele": "G", "start": 78436 } ], "hgvs": [ "NG_009058.2:g.78437G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706091" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000490131.7:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000418685.2:p.Trp70Ter", "hgvsWellDefined": "ENSP00000418685.2:p.Trp70_Ser1001delinsLeuGlnAlaMetIlePheAlaIleGluGluIleAsnSerSerProAlaLeuLeuProAsnLeuThrLeuGlyTyrArgIlePheAspThrCysAsnThrValSerLysAlaLeuGluAlaThrLeuSerPheValAlaGlnAsnLysIleAspSerLeuAsnLeuAspGluPheCysAsnCysSerGluHisIleProSerThrIleAlaValValGlyAlaThrGlySerGlyValSerThrAlaValAlaAsnLeuLeuGlyLeuPheTyrIleProGlnValSerTyrAlaSerSerSerArgLeuLeuSerAsnLysAsnGlnPheLysSerPheLeuArgThrIleProAsnAspGluHisGlnAlaThrAlaMetAlaAspIleIleGluTyrPheArgTrpAsnTrpValGlyThrIleAlaAlaAspAspAspTyrGlyArgProGlyIleGluLysPheArgGluGluAlaGluGluArgAspIleCysIleAspPheSerGluLeuIleSerGlnTyrSerAspGluGluGluIleGlnHisValValGluValIleGlnAsnSerThrAlaLysValIleValValPheSerSerGlyProAspLeuGluProLeuIleLysGluIleValArgArgAsnIleThrGlyLysIleTrpLeuAlaSerGluAlaTrpAlaSerSerSerLeuIleAlaMetProGlnTyrPheHisValValGlyGlyThrIleGlyPheAlaLeuLysAlaGlyGlnIleProGlyPheArgGluPheLeuLysLysValHisProArgLysSerValHisAsnGlyPheAlaLysGluPheTrpGluGluThrPheAsnCysHisLeuGlnGluGlyAlaLysGlyProLeuProValAspThrPheLeuArgGlyHisGluGluSerGlyAspArgPheSerAsnSerSerThrAlaPheArgProLeuCysThrGlyAspGluAsnIleSerSerValGluThrProTyrIleAspTyrThrHisLeuArgIleSerTyrAsnValTyrLeuAlaValTyrSerIleAlaHisAlaLeuGlnAspIleTyrThrCysLeuProGlyArgGlyLeuPheThrAsnGlySerCysAlaAspIleLysLysValGluAlaTrpGlnValProPheSerAsnCysSerArgAspCysLeuAlaGlyThrArgLysGlyIleIleGluGlyGluProThrCysCysPheGluCysValGluCysProAspGlyGluTyrSerAspGluThrAspAlaSerAlaCysAsnLysCysProAspAspPheTrpSerAsnGluAsnHisThrSerCysIleAlaLysGluIleGluPheLeuSerTrpThrGluProPheGlyIleAlaLeuThrLeuPheAlaValLeuGlyIlePheLeuThrAlaPheValLeuGlyValPheIleLysPheArgAsnThrProIleValLysAlaThrAsnArgGluLeuSerTyrLeuLeuLeuPheSerLeuLeuCysCysPheSerSerSerLeuPhePheIleGlyGluProGlnAspTrpThrCysArgLeuArgGlnProAlaPheGlyIleSerPheValLeuCysIleSerCysIleLeuValLysThrAsnArgValLeuLeuValPheGluAlaLysIleProThrSerPheHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeuLeuValPheLeuCysThrPheMetGlnIleValIleCysValIleTrpLeuTyrThrAlaProProSerSerTyrArgAsnGlnGluLeuGluAspGluIleIlePheIleThrCysHisGluGlySerLeuMetAlaLeuGlyPheLeuIleGlyTyrThrCysLeuLeuAlaAlaIleCysPhePhePheAlaPheLysSerArgLysLeuProGluAsnPheAsnGluAlaLysPheIleThrPheSerMetLeuIlePhePheIleValTrpIleSerPheIleProAlaTyrAlaSerThrTyrGlyLysPheValSerAlaValGluValIleAlaIleLeuAlaAlaSerPheGlyLeuLeuAlaCysIlePhePheAsnLysIleTyrIleIleLeuPheLysProSerArgAsnThrIleGluGluValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757629" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000498619.4:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000420194.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS757906" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000638296.1:n.128G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764457" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000638421.1:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000492190.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764520" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000639785.2:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000491584.2:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765173", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000639785.2:c.209G>A" }, "RefSeq": { "hgvs": "NM_000388.4:c.209G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000491584.2:p.Trp70Ter" }, "RefSeq": { "hgvs": "NP_000379.3:p.Trp70Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "G", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000490131.5:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000418685.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS328037" }, { "coordinates": [ { "allele": "A", "end": 68, "referenceAllele": "G", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000490186.1:n.68G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328078" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000498619.2:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000420194.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS334587" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "G", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_000388.3:c.209G>A" ], "proteinEffect": { "hgvs": "NP_000379.2:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006449" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_001178065.1:c.209G>A" ], "proteinEffect": { "hgvs": "NP_001171536.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS015837" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_005247836.2:c.209G>A" ], "proteinEffect": { "hgvs": "XP_005247893.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS058208" }, { "coordinates": [ { "allele": "A", "end": 94, "endIntronDirection": "+", "endIntronOffset": 2730, "referenceAllele": "G", "start": 94, "startIntronDirection": "+", "startIntronOffset": 2729 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_005247837.2:c.9+2730G>A" ], "proteinEffect": { "hgvs": "XP_005247894.1:n.9+2730G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS058209" }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_006713789.2:c.209G>A" ], "proteinEffect": { "hgvs": "XP_006713852.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS070360" }, { "coordinates": [ { "allele": "A", "end": 2686, "referenceAllele": "G", "start": 2685 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_011513237.1:c.209G>A" ], "proteinEffect": { "hgvs": "XP_011511539.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS080490" }, { "coordinates": [ { "allele": "A", "end": 2617, "referenceAllele": "G", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_011513238.1:c.209G>A" ], "proteinEffect": { "hgvs": "XP_011511540.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS080491" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_006713789.3:c.209G>A" ], "proteinEffect": { "hgvs": "XP_006713852.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS538582" }, { "coordinates": [ { "allele": "A", "end": 2527, "referenceAllele": "G", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007324.1:c.209G>A" ], "proteinEffect": { "hgvs": "XP_016862813.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS562107" }, { "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007325.1:c.209G>A" ], "proteinEffect": { "hgvs": "XP_016862814.1:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS562108" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_000388.4:c.209G>A" ], "proteinEffect": { "hgvs": "NP_000379.3:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000639785.2:c.209G>A" }, "RefSeq": { "hgvs": "NM_000388.4:c.209G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000491584.2:p.Trp70Ter" }, "RefSeq": { "hgvs": "NP_000379.3:p.Trp70Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_001178065.2:c.209G>A" ], "proteinEffect": { "hgvs": "NP_001171536.2:p.Trp70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS678929" } ], "type": "nucleotide" }