{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9444001", "communityStandardTitle": [ "NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3771073", "active": true, "id": "COSM3771073" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=648104[alleleid]", "alleleId": 648104, "preferredName": "NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/646421", "RCV": [ "RCV000857052", "RCV000800697" ], "variationId": 646421 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-40901570-G-A", "id": "19-40901570-G-A", "variant": "19:40901570 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40901570G>A?assembly=hg19", "id": "chr19:g.40901570G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40395663G>A?assembly=hg38", "id": "chr19:g.40395663G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/756689732", "rs": 756689732 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40901570-G-A?dataset=gnomad_r2_1", "id": "19-40901570-G-A", "variant": "19:40901570 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40395663-G-A?dataset=gnomad_r3", "id": "19-40395663-G-A", "variant": "19:40395663 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40395663-G-A?dataset=gnomad_r4", "id": "19-40395663-G-A", "variant": "19:40395663 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40395663, "referenceAllele": "G", "start": 40395662 } ], "hgvs": [ "NC_000019.10:g.40395663G>A", "CM000681.2:g.40395663G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40901570, "referenceAllele": "G", "start": 40901569 } ], "hgvs": [ "NC_000019.9:g.40901570G>A", "CM000681.1:g.40901570G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45593410, "referenceAllele": "G", "start": 45593409 } ], "hgvs": [ "NC_000019.8:g.45593410G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 22702, "referenceAllele": "C", "start": 22701 } ], "hgvs": [ "NG_007979.1:g.22702C>T", "LRG_265:g.22702C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.2689C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg897Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2689C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2689C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg897Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg897Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000673881.1:c.2272C>T" ], "proteinEffect": { "hgvs": "ENSP00000501070.1:p.Arg758Ter", "hgvsWellDefined": "ENSP00000501070.1:p.Arg758_Val1322delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.2974C>T" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Arg992Ter", "hgvsWellDefined": "ENSP00000501261.1:p.Arg992_Val1556delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774039" }, { "coordinates": [ { "allele": "T", "end": 2538, "referenceAllele": "C", "start": 2537 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674773.1:c.2272C>T" ], "proteinEffect": { "hgvs": "ENSP00000502579.1:p.Arg758Ter", "hgvsWellDefined": "ENSP00000502579.1:p.Arg758_Val1322delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "T", "end": 2564, "referenceAllele": "C", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.2564C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "T", "end": 2550, "referenceAllele": "C", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.2550C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "T", "end": 2651, "referenceAllele": "C", "start": 2650 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.2651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.2576C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "T", "end": 3607, "referenceAllele": "C", "start": 3606 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*2894C>T" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*2894C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.2689C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg897Ter", "hgvsWellDefined": "ENSP00000326018.6:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "T", "end": 3607, "referenceAllele": "C", "start": 3606 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*2894C>T", "LRG_265t1:c.*2894C>T" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*2894C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA916079024", "coordinates": [ { "allele": "T", "end": 2958, "referenceAllele": "C", "start": 2957 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.2689C>T", "LRG_265t2:c.2689C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg897Ter", "hgvsWellDefined": "NP_870998.2:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "T", "end": 2950, "referenceAllele": "C", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg897Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 2950, "referenceAllele": "C", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg897Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 3109, "referenceAllele": "C", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.2587C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Arg863Ter", "hgvsWellDefined": "XP_016882535.1:p.Arg863_Val1427delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.2587C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Arg863Ter", "hgvsWellDefined": "XP_016882536.1:p.Arg863_Val1427delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA916079024", "coordinates": [ { "allele": "T", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.2689C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg897Ter", "hgvsWellDefined": "NP_870998.2:p.Arg897_Val1461delinsValProSerValGluIleValThrProGlnLeuProAlaValGluIleGluGluGlyArgLeuGluMetIleGluThrLysValLysProSerSerLysPheSerLeuProLysPheGlyLeuSerGlyProLysValAlaLysAlaGluAlaGluGlyAlaGlyArgAlaThrLysLeuLysValSerLysPheAlaIleSerLeuProLysAlaArgValGlyAlaGluAlaGluAlaLysGlyAlaGlyGluAlaGlyLeuLeuProAlaLeuAspLeuSerIleProGlnLeuSerLeuAspAlaHisLeuProSerGlyLysValGluValAlaGlyAlaAspLeuLysPheLysGlyProArgPheAlaLeuProLysPheGlyValArgGlyArgAspThrGluAlaAlaGluLeuValProGlyValAlaGluLeuGluGlyLysGlyTrpGlyTrpAspGlyArgValLysMetProLysLeuLysMetProSerPheGlyLeuAlaArgGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.2689C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.2689C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg897Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg897Ter" } } } } ], "type": "nucleotide" }