{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA802049", "communityStandardTitle": [ "NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620000[alleleid]", "alleleId": 620000, "preferredName": "NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631604", "RCV": [ "RCV000778236", "RCV001869131" ], "variationId": 631604 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-43224589-G-A", "id": "1-43224589-G-A", "variant": "1:43224589 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.43224589G>A?assembly=hg19", "id": "chr1:g.43224589G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.42758918G>A?assembly=hg38", "id": "chr1:g.42758918G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/773269078", "rs": 773269078 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-43224589-G-A?dataset=gnomad_r2_1", "id": "1-43224589-G-A", "variant": "1:43224589 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-42758918-G-A?dataset=gnomad_r4", "id": "1-42758918-G-A", "variant": "1:42758918 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42758918, "referenceAllele": "G", "start": 42758917 } ], "hgvs": [ "NC_000001.11:g.42758918G>A", "CM000663.2:g.42758918G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 43224589, "referenceAllele": "G", "start": 43224588 } ], "hgvs": [ "NC_000001.10:g.43224589G>A", "CM000663.1:g.43224589G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42997176, "referenceAllele": "G", "start": 42997175 } ], "hgvs": [ "NC_000001.9:g.42997176G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13167, "referenceAllele": "C", "start": 13166 } ], "hgvs": [ "NG_008123.1:g.13167C>T", "LRG_5:g.13167C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000868" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.10:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Arg292Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Arg292_Leu736delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744408", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.874C>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.874C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Arg292Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Arg292Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000236040.8:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000236040.4:p.Arg292Ter", "hgvsWellDefined": "ENSP00000236040.4:p.Arg292_Ser804delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248959" }, { "coordinates": [ { "allele": "T", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.9:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Arg292Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Arg292_Leu736delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254287" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000397054.7:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000380245.3:p.Arg292Ter", "hgvsWellDefined": "ENSP00000380245.3:p.Arg292_Arg697delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277579" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000460031.5:n.892C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304863" }, { "coordinates": [ { "allele": "T", "end": 340, "referenceAllele": "C", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000463465.1:n.340C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307494" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000495874.5:n.925C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332482" }, { "@id": "http://reg.genome.network/allele/PA2825929171", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.1:c.874C>T", "LRG_5t2:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Arg292Ter", "hgvsWellDefined": "NP_001139761.1:p.Arg292_Arg697delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013945" }, { "@id": "http://reg.genome.network/allele/PA2826323581", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.1:c.874C>T", "LRG_5t3:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Arg292Ter", "hgvsWellDefined": "NP_001230175.1:p.Arg292_Ser804delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018465" }, { "@id": "http://reg.genome.network/allele/PA913197284", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.3:c.874C>T", "LRG_5t1:c.874C>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Arg292Ter", "hgvsWellDefined": "NP_071751.3:p.Arg292_Leu736delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037284" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_005271110.2:c.-135C>T" ], "proteinEffect": { "hgvs": "XP_005271167.1:n.-135C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS066770" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541947.1:c.-157C>T" ], "proteinEffect": { "hgvs": "XP_011540249.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108881" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541948.1:c.-157C>T" ], "proteinEffect": { "hgvs": "XP_011540250.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108882" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541949.1:c.-157C>T" ], "proteinEffect": { "hgvs": "XP_011540251.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108883" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.1:n.931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140321" }, { "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002051.2:c.-157C>T" ], "proteinEffect": { "hgvs": "XP_016857540.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558080" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002052.2:c.-157C>T" ], "proteinEffect": { "hgvs": "XP_016857541.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558081" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.2:n.931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614447" }, { "@id": "http://reg.genome.network/allele/PA913197284", "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.4:c.874C>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Arg292Ter", "hgvsWellDefined": "NP_071751.3:p.Arg292_Leu736delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.874C>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.874C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Arg292Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Arg292Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825929171", "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.2:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Arg292Ter", "hgvsWellDefined": "NP_001139761.1:p.Arg292_Arg697delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712912" }, { "@id": "http://reg.genome.network/allele/PA2826323581", "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.2:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Arg292Ter", "hgvsWellDefined": "NP_001230175.1:p.Arg292_Ser804delinsGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714457" } ], "type": "nucleotide" }