{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA405898142", "communityStandardTitle": [ "NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=919867[alleleid]", "alleleId": 919867, "preferredName": "NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/930783", "RCV": [ "RCV001196692" ], "variationId": 930783 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40902698G>A?assembly=hg19", "id": "chr19:g.40902698G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40396791G>A?assembly=hg38", "id": "chr19:g.40396791G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200483634", "rs": 200483634 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40396791, "referenceAllele": "G", "start": 40396790 } ], "hgvs": [ "NC_000019.10:g.40396791G>A", "CM000681.2:g.40396791G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40902698, "referenceAllele": "G", "start": 40902697 } ], "hgvs": [ "NC_000019.9:g.40902698G>A", "CM000681.1:g.40902698G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45594538, "referenceAllele": "G", "start": 45594537 } ], "hgvs": [ "NC_000019.8:g.45594538G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 21574, "referenceAllele": "C", "start": 21573 } ], "hgvs": [ "NG_007979.1:g.21574C>T", "LRG_265:g.21574C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.1561C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Gln521Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Gln521_Val1461delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.1561C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.1561C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Gln521Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Gln521Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1960, "referenceAllele": "C", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.1144C>T" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Gln382Ter", "hgvsWellDefined": "ENSP00000501070.1:p.Gln382_Val1322delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.1846C>T" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Gln616Ter", "hgvsWellDefined": "ENSP00000501261.1:p.Gln616_Val1556delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774039" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674773.1:c.1144C>T" ], "proteinEffect": { "hgvs": "ENSP00000502579.1:p.Gln382Ter", "hgvsWellDefined": "ENSP00000502579.1:p.Gln382_Val1322delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.1436C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.1422C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "T", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.1523C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.1448C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*1766C>T" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*1766C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.1561C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Gln521Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Gln521_Val1461delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*1766C>T", "LRG_265t1:c.*1766C>T" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*1766C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA1139747699", "coordinates": [ { "allele": "T", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.1561C>T", "LRG_265t2:c.1561C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Gln521Ter", "hgvsWellDefined": "NP_870998.2:p.Gln521_Val1461delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "T", "end": 1822, "referenceAllele": "C", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.1561C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Gln521Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 1822, "referenceAllele": "C", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.1561C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Gln521Ter", "hgvsWellDefined": "XP_011525473.1:p.Gln521_Val1461delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 1981, "referenceAllele": "C", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.1459C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Gln487Ter", "hgvsWellDefined": "XP_016882535.1:p.Gln487_Val1427delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.1459C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Gln487Ter", "hgvsWellDefined": "XP_016882536.1:p.Gln487_Val1427delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA1139747699", "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.1561C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Gln521Ter", "hgvsWellDefined": "NP_870998.2:p.Gln521_Val1461delinsLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.1561C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.1561C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Gln521Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Gln521Ter" } } } } ], "type": "nucleotide" }