{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA114888", "communityStandardTitle": [ "NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16297[alleleid]", "alleleId": 16297, "preferredName": "NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1258", "RCV": [ "RCV000001320", "RCV000224137" ], "variationId": 1258 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-43221287-G-A", "id": "1-43221287-G-A", "variant": "1:43221287 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.43221287G>A?assembly=hg19", "id": "chr1:g.43221287G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.42755616G>A?assembly=hg38", "id": "chr1:g.42755616G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203996", "rs": 118203996 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-43221287-G-A?dataset=gnomad_r2_1", "id": "1-43221287-G-A", "variant": "1:43221287 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-42755616-G-A?dataset=gnomad_r4", "id": "1-42755616-G-A", "variant": "1:42755616 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42755616, "referenceAllele": "G", "start": 42755615 } ], "hgvs": [ "NC_000001.11:g.42755616G>A", "CM000663.2:g.42755616G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 43221287, "referenceAllele": "G", "start": 43221286 } ], "hgvs": [ "NC_000001.10:g.43221287G>A", "CM000663.1:g.43221287G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42993874, "referenceAllele": "G", "start": 42993873 } ], "hgvs": [ "NC_000001.9:g.42993874G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 16469, "referenceAllele": "C", "start": 16468 } ], "hgvs": [ "NG_008123.1:g.16469C>T", "LRG_5:g.16469C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000868" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.10:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Arg368Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Arg368_Leu736delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744408", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1102C>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1102C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Arg368Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Arg368Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000236040.8:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000236040.4:p.Arg368Ter", "hgvsWellDefined": "ENSP00000236040.4:p.Arg368_Ser804delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248959" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.9:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Arg368Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Arg368_Leu736delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254287" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000397054.7:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000380245.3:p.Arg368Ter", "hgvsWellDefined": "ENSP00000380245.3:p.Arg368_Arg697delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277579" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000460031.5:n.1120C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304863" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000463465.1:n.591C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307494" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000495874.5:n.1208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332482" }, { "@id": "http://reg.genome.network/allele/PA114892", "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.1:c.1102C>T", "LRG_5t2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Arg368Ter", "hgvsWellDefined": "NP_001139761.1:p.Arg368_Arg697delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013945" }, { "@id": "http://reg.genome.network/allele/PA114893", "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.1:c.1102C>T", "LRG_5t3:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Arg368Ter", "hgvsWellDefined": "NP_001230175.1:p.Arg368_Ser804delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018465" }, { "@id": "http://reg.genome.network/allele/PA114894", "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.3:c.1102C>T", "LRG_5t1:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Arg368Ter", "hgvsWellDefined": "NP_071751.3:p.Arg368_Leu736delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037284" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_005271110.2:c.94C>T" ], "proteinEffect": { "hgvs": "XP_005271167.1:p.Arg32Ter", "hgvsWellDefined": "XP_005271167.1:p.Arg32_Leu400delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066770" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541947.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_011540249.1:p.Arg43Ter", "hgvsWellDefined": "XP_011540249.1:p.Arg43_Leu411delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108881" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541948.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_011540250.1:p.Arg43Ter", "hgvsWellDefined": "XP_011540250.1:p.Arg43_Leu411delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108882" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541949.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_011540251.1:p.Arg42Ter", "hgvsWellDefined": "XP_011540251.1:p.Arg42_Leu410delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108883" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.1:n.1159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140321" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002051.2:c.127C>T" ], "proteinEffect": { "hgvs": "XP_016857540.1:p.Arg43Ter", "hgvsWellDefined": "XP_016857540.1:p.Arg43_Leu411delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558080" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002052.2:c.124C>T" ], "proteinEffect": { "hgvs": "XP_016857541.1:p.Arg42Ter", "hgvsWellDefined": "XP_016857541.1:p.Arg42_Leu410delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558081" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.2:n.1159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614447" }, { "@id": "http://reg.genome.network/allele/PA114894", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.4:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Arg368Ter", "hgvsWellDefined": "NP_071751.3:p.Arg368_Leu736delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1102C>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1102C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Arg368Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Arg368Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA114892", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Arg368Ter", "hgvsWellDefined": "NP_001139761.1:p.Arg368_Arg697delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712912" }, { "@id": "http://reg.genome.network/allele/PA114893", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Arg368Ter", "hgvsWellDefined": "NP_001230175.1:p.Arg368_Ser804delinsSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714457" } ], "type": "nucleotide" }