{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117085", "communityStandardTitle": [ "NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19833[alleleid]", "alleleId": 19833, "preferredName": "NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4794", "RCV": [ "RCV000032006", "RCV000005061", "RCV000701391" ], "variationId": 4794 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-40901051-G-A", "id": "19-40901051-G-A", "variant": "19:40901051 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40901051G>A?assembly=hg19", "id": "chr19:g.40901051G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40395144G>A?assembly=hg38", "id": "chr19:g.40395144G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894708", "rs": 104894708 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40901051-G-A?dataset=gnomad_r2_1", "id": "19-40901051-G-A", "variant": "19:40901051 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40395144-G-A?dataset=gnomad_r4", "id": "19-40395144-G-A", "variant": "19:40395144 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40395144, "referenceAllele": "G", "start": 40395143 } ], "hgvs": [ "NC_000019.10:g.40395144G>A", "CM000681.2:g.40395144G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40901051, "referenceAllele": "G", "start": 40901050 } ], "hgvs": [ "NC_000019.9:g.40901051G>A", "CM000681.1:g.40901051G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 45592891, "referenceAllele": "G", "start": 45592890 } ], "hgvs": [ "NC_000019.8:g.45592891G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 23221, "referenceAllele": "C", "start": 23220 } ], "hgvs": [ "NG_007979.1:g.23221C>T", "LRG_265:g.23221C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000747" }, { "coordinates": [ { "allele": "T", "end": 78, "referenceAllele": "C", "start": 77 } ], "hgvs": [ "NG_051224.1:g.78C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616912" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3491, "referenceAllele": "C", "start": 3490 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.8:c.3208C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg1070Ter", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773939" }, { "coordinates": [ { "allele": "T", "end": 3544, "referenceAllele": "C", "start": 3543 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000674005.2:c.3493C>T" ], "proteinEffect": { "hgvs": "ENSP00000501261.1:p.Arg1165Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774689" }, { "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "C", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000675517.1:c.3083C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775326" }, { "coordinates": [ { "allele": "T", "end": 3069, "referenceAllele": "C", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676076.1:c.3069C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775811" }, { "coordinates": [ { "allele": "T", "end": 3170, "referenceAllele": "C", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676260.1:c.3170C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775970" }, { "coordinates": [ { "allele": "T", "end": 3095, "referenceAllele": "C", "start": 3094 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000676316.1:c.3095C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776013" }, { "coordinates": [ { "allele": "T", "end": 4126, "referenceAllele": "C", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000291825.11:c.*3413C>T" ], "proteinEffect": { "hgvs": "ENSP00000291825.6:n.*3413C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS253765" }, { "coordinates": [ { "allele": "T", "end": 3479, "referenceAllele": "C", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "ENST00000324001.7:c.3208C>T" ], "proteinEffect": { "hgvs": "ENSP00000326018.6:p.Arg1070Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258283" }, { "coordinates": [ { "allele": "T", "end": 4126, "referenceAllele": "C", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_020956.2:c.*3413C>T", "LRG_265t1:c.*3413C>T" ], "proteinEffect": { "hgvs": "NP_066007.1:n.*3413C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS036720" }, { "@id": "http://reg.genome.network/allele/PA117087", "coordinates": [ { "allele": "T", "end": 3477, "referenceAllele": "C", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.2:c.3208C>T", "LRG_265t2:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg1070Ter", "hgvsWellDefined": "NP_870998.2:p.Arg1070_Val1461delinsGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043920" }, { "coordinates": [ { "allele": "T", "end": 3469, "referenceAllele": "C", "start": 3468 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.1:c.3208C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg1070Ter", "hgvsWellDefined": "XP_011525473.1:p.Arg1070_Val1461delinsGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094265" }, { "coordinates": [ { "allele": "T", "end": 3469, "referenceAllele": "C", "start": 3468 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_011527171.2:c.3208C>T" ], "proteinEffect": { "hgvs": "XP_011525473.1:p.Arg1070Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS548559" }, { "coordinates": [ { "allele": "T", "end": 3628, "referenceAllele": "C", "start": 3627 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027046.1:c.3106C>T" ], "proteinEffect": { "hgvs": "XP_016882535.1:p.Arg1036Ter", "hgvsWellDefined": "XP_016882535.1:p.Arg1036_Val1427delinsGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577044" }, { "coordinates": [ { "allele": "T", "end": 3171, "referenceAllele": "C", "start": 3170 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "XM_017027047.1:c.3106C>T" ], "proteinEffect": { "hgvs": "XP_016882536.1:p.Arg1036Ter", "hgvsWellDefined": "XP_016882536.1:p.Arg1036_Val1427delinsGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577045" }, { "@id": "http://reg.genome.network/allele/PA117087", "coordinates": [ { "allele": "T", "end": 3491, "referenceAllele": "C", "start": 3490 } ], "gene": "http://reg.genome.network/gene/GN013797", "geneNCBI_id": 57716, "geneSymbol": "PRX", "hgvs": [ "NM_181882.3:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_870998.2:p.Arg1070Ter", "hgvsWellDefined": "NP_870998.2:p.Arg1070_Val1461delinsGlyLysGluAlaGluValGlnGlyAspArgAlaSerProGlyGluLysAlaGluSerThrAlaValGlnLeuLysIleProGluValGluLeuValThrLeuGlyAlaGlnGluGluGlyArgAlaGluGlyAlaValAlaValSerGlyMetGlnLeuSerGlyLeuLysValSerThrAlaGlyGlnValValThrGluGlyHisAspAlaGlyLeuArgMetProProLeuGlyIleSerLeuProGlnValGluLeuThrGlyPheGlyGluAlaGlyThrProGlyGlnGlnAlaGlnSerThrValProSerAlaGluGlyThrAlaGlyTyrArgValGlnValProGlnValThrLeuSerLeuProGlyAlaGlnValAlaGlyGlyGluLeuLeuValGlyGluGlyValPheLysMetProThrValThrValProGlnLeuGluLeuAspValGlyLeuSerArgGluAlaGlnAlaGlyGluAlaAlaThrGlyGluGlyGlyLeuArgLeuLysLeuProThrLeuGlyAlaArgAlaArgValGlyGlyGluGlyAlaGluGluGlnProProGlyAlaGluArgThrPheCysLeuSerLeuProAspValGluLeuSerProSerGlyGlyAsnHisAlaGluTyrGlnValAlaGluGlyGluGlyGluAlaGlyHisLysLeuLysValArgLeuProArgPheGlyLeuValArgAlaLysGluGlyAlaGluGluGlyGluLysAlaLysSerProLysLeuArgLeuProArgValGlyPheSerGlnSerGluMetValThrGlyGluGlySerProSerProGluGluGluGluGluGluGluGluGluGlySerGlyGluGlyAlaSerGlyArgArgGlyArgValArgValArgLeuProArgValGlyLeuAlaAlaProSerLysAlaSerArgGlyGlnGluGlyAspAlaAlaProLysSerProValArgGluLysSerProLysPheArgPheProArgValSerLeuSerProLysAlaArgSerGlySerGlyAspGlnGluGluGlyGlyLeuArgValArgLeuProSerValGlyPheSerGluThrGlyAlaProGlyProAlaArgMetGluGlyAlaGlnAlaAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324001.8:c.3208C>T" }, "RefSeq": { "hgvs": "NM_181882.3:c.3208C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326018.6:p.Arg1070Ter" }, "RefSeq": { "hgvs": "NP_870998.2:p.Arg1070Ter" } } } } ], "type": "nucleotide" }