{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA343107", "communityStandardTitle": [ "NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19831[alleleid]", "alleleId": 19831, "preferredName": "NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4792", "RCV": [ "RCV000032004", "RCV000474032", "RCV000760319", "RCV001172756", "RCV002426489" ], "variationId": 4792 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-40902114-A-T", "id": "19-40902114-A-T", "variant": "19:40902114 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40902114A>T?assembly=hg19", "id": "chr19:g.40902114A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40396207A>T?assembly=hg38", "id": "chr19:g.40396207A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894707", "rs": 104894707 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40902114-A-T?dataset=gnomad_r2_1", "id": "19-40902114-A-T", "variant": "19:40902114 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40396207-A-T?dataset=gnomad_r3", "id": "19-40396207-A-T", "variant": "19:40396207 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40396207-A-T?dataset=gnomad_r4", "id": "19-40396207-A-T", "variant": "19:40396207 A / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 40396207, "referenceAllele": "A", "start": 40396206 } ], "hgvs": [ "NC_000019.10:g.40396207A>T", "CM000681.2:g.40396207A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 40902114, "referenceAllele": "A", "start": 40902113 } ], "hgvs": [ "NC_000019.9:g.40902114A>T", "CM000681.1:g.40902114A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 45593954, "referenceAllele": "A", "start": 45593953 } ], "hgvs": [ "NC_000019.8:g.45593954A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 22158, "referenceAllele": "T", "start": 22157 } ], "hgvs": [ "NG_007979.1:g.22158T>A", "LRG_265:g.22158T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "T", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.2145T>A" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Cys715Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2145T>A" }, "RefSeq": { "hgvs": "NM_181882.3:c.2145T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Cys715Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Cys715Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2544, "referenceAllele": "T", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.1728T>A" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Cys576Ter", "hgvsWellDefined": "ENSP00000501070.1:p.Cys576_Val1322delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "A", "end": 2481, "referenceAllele": "T", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.2430T>A" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Cys810Ter", "hgvsWellDefined": "ENSP00000501261.1:p.Cys810_Val1556delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774039" }, { "coordinates": [ { "allele": "A", "end": 1994, "referenceAllele": "T", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674773.1:c.1728T>A" ], "proteinEffect": { "hgvs": "ENSP00000502579.1:p.Cys576Ter", "hgvsWellDefined": "ENSP00000502579.1:p.Cys576_Val1322delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "A", "end": 2020, "referenceAllele": "T", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.2020T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "T", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.2006T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "A", "end": 2107, "referenceAllele": "T", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.2107T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.2032T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "T", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*2350T>A" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*2350T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "A", "end": 2416, "referenceAllele": "T", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.2145T>A" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Cys715Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "T", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*2350T>A", "LRG_265t1:c.*2350T>A" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*2350T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA343109", "coordinates": [ { "allele": "A", "end": 2414, "referenceAllele": "T", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.2145T>A", "LRG_265t2:c.2145T>A" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Cys715Ter", "hgvsWellDefined": "NP_870998.2:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "A", "end": 2406, "referenceAllele": "T", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.2145T>A" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Cys715Ter", "hgvsWellDefined": "XP_011525473.1:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "A", "end": 2406, "referenceAllele": "T", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.2145T>A" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Cys715Ter", "hgvsWellDefined": "XP_011525473.1:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "A", "end": 2565, "referenceAllele": "T", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.2043T>A" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Cys681Ter", "hgvsWellDefined": "XP_016882535.1:p.Cys681_Val1427delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "A", "end": 2108, "referenceAllele": "T", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.2043T>A" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Cys681Ter", "hgvsWellDefined": "XP_016882536.1:p.Cys681_Val1427delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA343109", "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "T", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.2145T>A" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Cys715Ter", "hgvsWellDefined": "NP_870998.2:p.Cys715_Val1461delinsGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValSerGluIleArgLeuProGluMetGlnValProLysValProAspValHisLeuProLysAlaProGluValLysLeuProArgAlaProGluValGlnLeuLysAlaThrLysAlaGluGlnAlaGluGlyMetGluPheGlyPheLysMetProLysMetThrMetProLysLeuGlyArgAlaGluSerProSerArgGlyLysProGlyGluAlaGlyAlaGluValSerGlyLysLeuValThrLeuProCysLeuGlnProGluValAspGlyGluAlaHisValGlyValProSerLeuThrLeuProSerValGluLeuAspLeuProGlyAlaLeuGlyLeuGlnGlyGlnValProAlaAlaLysMetGlyLysGlyGluArgValGluGlyProGluValAlaAlaGlyValArgGluValGlyPheArgValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2145T>A" }, "RefSeq": { "hgvs": "NM_181882.3:c.2145T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Cys715Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Cys715Ter" } } } } ], "type": "nucleotide" }