{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115893", "communityStandardTitle": [ "NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17983[alleleid]", "alleleId": 17983, "preferredName": "NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2944", "RCV": [ "RCV000003078" ], "variationId": 2944 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.108395820A>T?assembly=hg19", "id": "chr6:g.108395820A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.108074616A>T?assembly=hg38", "id": "chr6:g.108074616A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119460973", "rs": 119460973 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 108074616, "referenceAllele": "A", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS740113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000193322.8:c.36T>A" }, "RefSeq": { "hgvs": "NM_014028.4:c.36T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000193322.3:p.Cys12Ter" }, "RefSeq": { "hgvs": "NP_054747.2:p.Cys12Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "T", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "ENST00000193322.7:c.36T>A" ], "proteinEffect": { "hgvs": "ENSP00000193322.3:p.Cys12Ter", "hgvsWellDefined": "ENSP00000193322.3:p.Cys12_Asn334delinsSerLeuProProTrpLeuProLeuGlyLeuLeuLeuTrpSerGlyLeuAlaLeuGlyAlaLeuProPheGlySerSerProHisArgValPheHisAspLeuLeuSerGluGlnGlnLeuLeuGluValGluAspLeuSerLeuSerLeuLeuGlnGlyGlyGlyLeuGlyProLeuSerLeuProProAspLeuProAspLeuAspProGluCysArgGluLeuLeuLeuAspPheAlaAsnSerSerAlaGluLeuThrGlyCysLeuValArgSerAlaArgProValArgLeuCysGlnThrCysTyrProLeuPheGlnGlnValValSerLysMetAspAsnIleSerArgAlaAlaGlyAsnThrSerGluSerGlnSerCysAlaArgSerLeuLeuMetAlaAspArgMetGlnIleValValIleLeuSerGluPhePheAsnThrThrTrpGlnGluAlaAsnCysAlaAsnCysLeuThrAsnAsnSerGluGluLeuSerAsnSerThrValTyrPheLeuAsnLeuPheAsnHisThrLeuThrCysPheGluHisAsnLeuGlnGlyAsnAlaHisSerLeuLeuGlnThrLysAsnTyrSerGluValCysLysAsnCysArgGluAlaTyrLysThrLeuSerSerLeuTyrSerGluMetGlnLysMetAsnGluLeuGluAsnLysAlaGluProGlyThrHisLeuCysIleAspValGluAspAlaMetAsnIleThrArgLysLeuTrpSerArgThrPheAsnCysSerValProCysSerAspThrValProValIleAlaValSerValPheIleLeuPheLeuProValValPheTyrLeuSerSerPheLeuHisSerGluGlnLysLysArgLysLeuIleLeuProLysArgLeuLysSerSerThrSerPheAlaAsnIleGlnGluAsnSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247731" }, { "coordinates": [ { "allele": "A", "end": 167, "endIntronDirection": "-", "endIntronOffset": 10316, "referenceAllele": "T", "start": 167, "startIntronDirection": "-", "startIntronOffset": 10317 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "ENST00000440575.6:c.-39-10317T>A" ], "proteinEffect": { "hgvs": "ENSP00000398556.2:n.-39-10317T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295956" }, { "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "T", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "ENST00000467960.1:n.126T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310987" }, { "@id": "http://reg.genome.network/allele/PA115894", "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "T", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "NM_014028.3:c.36T>A" ], "proteinEffect": { "hgvs": "NP_054747.2:p.Cys12Ter", "hgvsWellDefined": "NP_054747.2:p.Cys12_Asn334delinsSerLeuProProTrpLeuProLeuGlyLeuLeuLeuTrpSerGlyLeuAlaLeuGlyAlaLeuProPheGlySerSerProHisArgValPheHisAspLeuLeuSerGluGlnGlnLeuLeuGluValGluAspLeuSerLeuSerLeuLeuGlnGlyGlyGlyLeuGlyProLeuSerLeuProProAspLeuProAspLeuAspProGluCysArgGluLeuLeuLeuAspPheAlaAsnSerSerAlaGluLeuThrGlyCysLeuValArgSerAlaArgProValArgLeuCysGlnThrCysTyrProLeuPheGlnGlnValValSerLysMetAspAsnIleSerArgAlaAlaGlyAsnThrSerGluSerGlnSerCysAlaArgSerLeuLeuMetAlaAspArgMetGlnIleValValIleLeuSerGluPhePheAsnThrThrTrpGlnGluAlaAsnCysAlaAsnCysLeuThrAsnAsnSerGluGluLeuSerAsnSerThrValTyrPheLeuAsnLeuPheAsnHisThrLeuThrCysPheGluHisAsnLeuGlnGlyAsnAlaHisSerLeuLeuGlnThrLysAsnTyrSerGluValCysLysAsnCysArgGluAlaTyrLysThrLeuSerSerLeuTyrSerGluMetGlnLysMetAsnGluLeuGluAsnLysAlaGluProGlyThrHisLeuCysIleAspValGluAspAlaMetAsnIleThrArgLysLeuTrpSerArgThrPheAsnCysSerValProCysSerAspThrValProValIleAlaValSerValPheIleLeuPheLeuProValValPheTyrLeuSerSerPheLeuHisSerGluGlnLysLysArgLysLeuIleLeuProLysArgLeuLysSerSerThrSerPheAlaAsnIleGlnGluAsnSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032883" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "T", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "XM_011535775.1:c.36T>A" ], "proteinEffect": { "hgvs": "XP_011534077.1:p.Cys12Ter", "hgvsWellDefined": "XP_011534077.1:p.Cys12_Asn346delinsSerLeuProProTrpLeuProLeuGlyLeuLeuLeuTrpSerGlyLeuAlaLeuGlyAlaLeuProPheGlySerSerProHisArgValPheHisAspLeuLeuSerGluGlnGlnLeuLeuGluValGluAspLeuSerLeuSerLeuLeuGlnGlyGlyGlyLeuGlyProLeuSerLeuProProAspLeuProAspLeuAspProGluCysArgGluLeuLeuLeuAspPheAlaAsnSerSerAlaGluLeuThrGlyCysLeuValArgSerAlaArgProValArgLeuCysGlnThrCysTyrProLeuPheGlnGlnValValSerLysMetAspAsnIleSerArgAlaAlaGlyAsnThrSerGluSerGlnSerCysAlaArgSerLeuLeuMetAlaAspArgMetGlnIleValValIleLeuSerGluPhePheAsnThrThrTrpGlnGluAlaAsnCysAlaAsnCysLeuThrAsnAsnSerGluGluLeuSerAsnSerThrValTyrPheLeuAsnLeuPheAsnHisThrLeuThrCysPheGluHisAsnLeuGlnGlyAsnAlaHisSerLeuLeuGlnThrLysAsnTyrSerGluValCysLysAsnCysArgGluAlaTyrLysThrLeuSerSerLeuTyrSerGluMetGlnLysMetAsnGluLeuGluAsnLysAlaGluProGlyThrHisLeuCysIleAspValGluAspAlaLysLysLeuSerSerThrIleSerArgPheLeuGluMetAsnIleThrArgLysLeuTrpSerArgThrPheAsnCysSerValProCysSerAspThrValProValIleAlaValSerValPheIleLeuPheLeuProValValPheTyrLeuSerSerPheLeuHisSerGluGlnLysLysArgLysLeuIleLeuProLysArgLeuLysSerSerThrSerPheAlaAsnIleGlnGluAsnSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102777" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "T", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "XR_942410.1:n.119T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136752" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "T", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "XR_942410.3:n.118T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS613181" }, { "@id": "http://reg.genome.network/allele/PA115894", "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "T", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN021652", "geneNCBI_id": 28962, "geneSymbol": "OSTM1", "hgvs": [ "NM_014028.4:c.36T>A" ], "proteinEffect": { "hgvs": "NP_054747.2:p.Cys12Ter", "hgvsWellDefined": "NP_054747.2:p.Cys12_Asn334delinsSerLeuProProTrpLeuProLeuGlyLeuLeuLeuTrpSerGlyLeuAlaLeuGlyAlaLeuProPheGlySerSerProHisArgValPheHisAspLeuLeuSerGluGlnGlnLeuLeuGluValGluAspLeuSerLeuSerLeuLeuGlnGlyGlyGlyLeuGlyProLeuSerLeuProProAspLeuProAspLeuAspProGluCysArgGluLeuLeuLeuAspPheAlaAsnSerSerAlaGluLeuThrGlyCysLeuValArgSerAlaArgProValArgLeuCysGlnThrCysTyrProLeuPheGlnGlnValValSerLysMetAspAsnIleSerArgAlaAlaGlyAsnThrSerGluSerGlnSerCysAlaArgSerLeuLeuMetAlaAspArgMetGlnIleValValIleLeuSerGluPhePheAsnThrThrTrpGlnGluAlaAsnCysAlaAsnCysLeuThrAsnAsnSerGluGluLeuSerAsnSerThrValTyrPheLeuAsnLeuPheAsnHisThrLeuThrCysPheGluHisAsnLeuGlnGlyAsnAlaHisSerLeuLeuGlnThrLysAsnTyrSerGluValCysLysAsnCysArgGluAlaTyrLysThrLeuSerSerLeuTyrSerGluMetGlnLysMetAsnGluLeuGluAsnLysAlaGluProGlyThrHisLeuCysIleAspValGluAspAlaMetAsnIleThrArgLysLeuTrpSerArgThrPheAsnCysSerValProCysSerAspThrValProValIleAlaValSerValPheIleLeuPheLeuProValValPheTyrLeuSerSerPheLeuHisSerGluGlnLysLysArgLysLeuIleLeuProLysArgLeuLysSerSerThrSerPheAlaAsnIleGlnGluAsnSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668174", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000193322.8:c.36T>A" }, "RefSeq": { "hgvs": "NM_014028.4:c.36T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000193322.3:p.Cys12Ter" }, "RefSeq": { "hgvs": "NP_054747.2:p.Cys12Ter" } } } } ], "type": "nucleotide" }