{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA405895721", "communityStandardTitle": [ "NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018574[alleleid]", "alleleId": 1018574, "preferredName": "NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029317", "RCV": [ "RCV001330567" ], "variationId": 1029317 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40901540G>A?assembly=hg19", "id": "chr19:g.40901540G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40395633G>A?assembly=hg38", "id": "chr19:g.40395633G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2079426412", "rs": 2079426412 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40395633, "referenceAllele": "G", "start": 40395632 } ], "hgvs": [ "NC_000019.10:g.40395633G>A", "CM000681.2:g.40395633G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40901540, "referenceAllele": "G", "start": 40901539 } ], "hgvs": [ "NC_000019.9:g.40901540G>A", "CM000681.1:g.40901540G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45593380, "referenceAllele": "G", "start": 45593379 } ], "hgvs": [ "NC_000019.8:g.45593380G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 22732, "referenceAllele": "C", "start": 22731 } ], "hgvs": [ "NG_007979.1:g.22732C>T", "LRG_265:g.22732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3002, "referenceAllele": "C", "start": 3001 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.2719C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Gln907Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2719C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2719C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Gln907Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Gln907Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.2302C>T" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Gln768Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "C", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.3004C>T" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Gln1002Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774039" }, { "coordinates": [ { "allele": "T", "end": 2568, "referenceAllele": "C", "start": 2567 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674773.1:c.2302C>T" ], "proteinEffect": { "hgvs": "ENSP00000502579.1:p.Gln768Ter", "hgvsWellDefined": "ENSP00000502579.1:p.Gln768_Val1322delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "T", "end": 2594, "referenceAllele": "C", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.2594C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "T", "end": 2580, "referenceAllele": "C", "start": 2579 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.2580C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "T", "end": 2681, "referenceAllele": "C", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.2681C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "T", "end": 2606, "referenceAllele": "C", "start": 2605 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.2606C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "C", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*2924C>T" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*2924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "T", "end": 2990, "referenceAllele": "C", "start": 2989 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.2719C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Gln907Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "C", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*2924C>T", "LRG_265t1:c.*2924C>T" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*2924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA2499302263", "coordinates": [ { "allele": "T", "end": 2988, "referenceAllele": "C", "start": 2987 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.2719C>T", "LRG_265t2:c.2719C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Gln907Ter", "hgvsWellDefined": "NP_870998.2:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "T", "end": 2980, "referenceAllele": "C", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.2719C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Gln907Ter", "hgvsWellDefined": "XP_011525473.1:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 2980, "referenceAllele": "C", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.2719C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Gln907Ter", "hgvsWellDefined": "XP_011525473.1:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.2617C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Gln873Ter", "hgvsWellDefined": "XP_016882535.1:p.Gln873_Val1427delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.2617C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Gln873Ter", "hgvsWellDefined": "XP_016882536.1:p.Gln873_Val1427delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA2499302263", "coordinates": [ { "allele": "T", "end": 3002, "referenceAllele": "C", "start": 3001 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.2719C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Gln907Ter", "hgvsWellDefined": "NP_870998.2:p.Gln907_Val1461delinsLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2719C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2719C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Gln907Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Gln907Ter" } } } } ], "type": "nucleotide" }