{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA316454", "communityStandardTitle": [ "NM_007254.4(PNKP):c.490C>T (p.Gln164Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203609[alleleid]", "alleleId": 203609, "preferredName": "NM_007254.4(PNKP):c.490C>T (p.Gln164Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206387", "RCV": [ "RCV000188429" ], "variationId": 206387 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.50368392G>A?assembly=hg19", "id": "chr19:g.50368392G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.49865135G>A?assembly=hg38", "id": "chr19:g.49865135G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375781731", "rs": 375781731 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 49865135, "referenceAllele": 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"ENSP00000486707.1:p.Gln164_Gly485delinsGlyLysValAlaGlyPheAspLeuAspGlyThrLeuIleThrThrArgSerGlyLysValPheProThrGlyProSerAspTrpArgIleLeuTyrProGluIleProArgLysLeuArgGluLeuGluAlaGluGlyTyrLysValLeuValAlaThrHisAlaGlyLeuTyrArgLysProValThrGlyMetTrpAspHisLeuGlnGluGlnAlaAsnAspGlyThrProIleSerIleGlyAspSerIlePheValGlyAspAlaAlaGlyArgProAlaAsnTrpAlaProGlyArgLysLysLysAspPheSerCysAlaAspArgLeuPheAlaLeuAsnLeuGlyLeuProPheAlaThrProGluGluPhePheLeuLysTrpProAlaAlaGlyPheGluLeuProAlaPheAspProArgThrValSerArgSerGlyProLeuCysLeuProGluSerArgAlaLeuLeuSerAlaSerProGluValValValAlaValGlyPheProGlyAlaGlyLysSerThrPheLeuLysLysHisLeuValSerAlaGlyTyrValHisValAsnArgAspThrLeuGlySerTrpGlnArgCysValThrThrCysGluThrAlaLeuLysGlnGlyLysArgValAlaIleAspAsnThrAsnProAspAlaAlaSerArgAlaArgTyrValGlnCysAlaArgAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032176" }, { "@id": "http://reg.genome.network/allele/PA316455", "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009154", "geneNCBI_id": 11284, "geneSymbol": "PNKP", "hgvs": [ "NM_007254.4:c.490C>T" ], "proteinEffect": { "hgvs": "NP_009185.2:p.Gln164Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS667833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000322344.8:c.490C>T" }, "RefSeq": { "hgvs": "NM_007254.4:c.490C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000323511.2:p.Gln164Ter" }, "RefSeq": { "hgvs": "NP_009185.2:p.Gln164Ter" } } } } ], "type": "nucleotide" }