{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9444273", "communityStandardTitle": [ "NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=418243", "active": true, "id": "COSM418243" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573125[alleleid]", "alleleId": 573125, "preferredName": "NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580375", "RCV": [ "RCV000703893", "RCV001811452" ], "variationId": 580375 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-40902869-G-A", "id": "19-40902869-G-A", "variant": "19:40902869 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40902869G>A?assembly=hg19", "id": "chr19:g.40902869G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40396962G>A?assembly=hg38", "id": "chr19:g.40396962G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/574861276", "rs": 574861276 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40902869-G-A?dataset=gnomad_r2_1", "id": "19-40902869-G-A", "variant": "19:40902869 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40396962-G-A?dataset=gnomad_r3", "id": "19-40396962-G-A", "variant": "19:40396962 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40396962-G-A?dataset=gnomad_r4", "id": "19-40396962-G-A", "variant": "19:40396962 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40396962, "referenceAllele": "G", "start": 40396961 } ], "hgvs": [ "NC_000019.10:g.40396962G>A", "CM000681.2:g.40396962G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40902869, "referenceAllele": "G", "start": 40902868 } ], "hgvs": [ "NC_000019.9:g.40902869G>A", "CM000681.1:g.40902869G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45594709, "referenceAllele": "G", "start": 45594708 } ], "hgvs": [ "NC_000019.8:g.45594709G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 21403, "referenceAllele": "C", "start": 21402 } ], "hgvs": [ "NG_007979.1:g.21403C>T", "LRG_265:g.21403C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.1390C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg464Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.1390C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.1390C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg464Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg464Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Arg325Ter", "hgvsWellDefined": "ENSP00000501070.1:p.Arg325_Val1322delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.1675C>T" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Arg559Ter", "hgvsWellDefined": "ENSP00000501261.1:p.Arg559_Val1556delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774039" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674773.1:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000502579.1:p.Arg325Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.1265C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.1251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.1352C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "T", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.1277C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "T", "end": 2308, "referenceAllele": "C", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*1595C>T" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*1595C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "T", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.1390C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg464Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "T", "end": 2308, "referenceAllele": "C", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*1595C>T", "LRG_265t1:c.*1595C>T" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*1595C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA891860018", "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.1390C>T", "LRG_265t2:c.1390C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg464Ter", "hgvsWellDefined": "NP_870998.2:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.1390C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg464Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.1390C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg464Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.1288C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Arg430Ter", "hgvsWellDefined": "XP_016882535.1:p.Arg430_Val1427delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.1288C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Arg430Ter", "hgvsWellDefined": "XP_016882536.1:p.Arg430_Val1427delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA891860018", "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.1390C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg464Ter", "hgvsWellDefined": "NP_870998.2:p.Arg464_Val1461delinsLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGluLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuLeuLysValSerGluMetLysLeuProLysValProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProGluValSerGluValAlaValProGluValArgLeuProGluValGlnLeuProLysValProGluMetLysValProGluMetLysLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValGlnLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.1390C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.1390C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg464Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg464Ter" } } } } ], "type": "nucleotide" }