{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117076", "communityStandardTitle": [ "NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19826[alleleid]", "alleleId": 19826, "preferredName": "NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4787", "RCV": [ "RCV000005053", "RCV000201141", "RCV000236836", "RCV000458979", "RCV001172752" ], "variationId": 4787 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-40901402-G-A", "id": "19-40901402-G-A", "variant": "19:40901402 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40901402G>A?assembly=hg19", "id": "chr19:g.40901402G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40395495G>A?assembly=hg38", "id": "chr19:g.40395495G>A" } ], 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"http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45593242, "referenceAllele": "G", "start": 45593241 } ], "hgvs": [ "NC_000019.8:g.45593242G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 22870, "referenceAllele": "C", "start": 22869 } ], "hgvs": [ "NG_007979.1:g.22870C>T", "LRG_265:g.22870C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "C", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.2857C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg953Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2857C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2857C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg953Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg953Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.2440C>T" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Arg814Ter", "hgvsWellDefined": 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"XP_011525473.1:p.Arg953_Val1461delinsAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg953Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg953_Val1461delinsAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 3277, "referenceAllele": "C", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.2755C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Arg919Ter", "hgvsWellDefined": "XP_016882535.1:p.Arg919_Val1427delinsAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 2820, "referenceAllele": "C", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.2755C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Arg919Ter", "hgvsWellDefined": "XP_016882536.1:p.Arg919_Val1427delinsAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA117078", "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "C", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.2857C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg953Ter", "hgvsWellDefined": "NP_870998.2:p.Arg953_Val1461delinsAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2857C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2857C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg953Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg953Ter" } } } } ], "type": "nucleotide" }