{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA801964", "communityStandardTitle": [ "NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275284[alleleid]", "alleleId": 275284, "preferredName": "NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291047", "RCV": [ "RCV000369412", "RCV003454835" ], "variationId": 291047 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-43221269-C-A", "id": "1-43221269-C-A", "variant": "1:43221269 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.43221269C>A?assembly=hg19", "id": "chr1:g.43221269C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.42755598C>A?assembly=hg38", "id": "chr1:g.42755598C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/140468248", "rs": 140468248 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-43221269-C-A?dataset=gnomad_r2_1", "id": "1-43221269-C-A", "variant": "1:43221269 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-42755598-C-A?dataset=gnomad_r3", "id": "1-42755598-C-A", "variant": "1:42755598 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-42755598-C-A?dataset=gnomad_r4", "id": "1-42755598-C-A", "variant": "1:42755598 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42755598, "referenceAllele": "C", "start": 42755597 } ], "hgvs": [ "NC_000001.11:g.42755598C>A", "CM000663.2:g.42755598C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 43221269, "referenceAllele": "C", "start": 43221268 } ], "hgvs": [ "NC_000001.10:g.43221269C>A", "CM000663.1:g.43221269C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42993856, "referenceAllele": "C", "start": 42993855 } ], "hgvs": [ "NC_000001.9:g.42993856C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 16487, "referenceAllele": "G", "start": 16486 } ], "hgvs": [ "NG_008123.1:g.16487G>T", "LRG_5:g.16487G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000868" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.10:c.1120G>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Glu374Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Glu374_Leu736delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744408", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1120G>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1120G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Glu374Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Glu374Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "G", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000236040.8:c.1120G>T" ], "proteinEffect": { "hgvs": "ENSP00000236040.4:p.Glu374Ter", "hgvsWellDefined": "ENSP00000236040.4:p.Glu374_Ser804delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248959" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.9:c.1120G>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Glu374Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Glu374_Leu736delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254287" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000397054.7:c.1120G>T" ], "proteinEffect": { "hgvs": "ENSP00000380245.3:p.Glu374Ter", "hgvsWellDefined": "ENSP00000380245.3:p.Glu374_Arg697delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277579" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000460031.5:n.1138G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304863" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "G", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000463465.1:n.609G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307494" }, { "coordinates": [ { "allele": "T", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000495874.5:n.1226G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332482" }, { "@id": "http://reg.genome.network/allele/PA2825929239", "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.1:c.1120G>T", "LRG_5t2:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Glu374Ter", "hgvsWellDefined": "NP_001139761.1:p.Glu374_Arg697delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013945" }, { "@id": "http://reg.genome.network/allele/PA2826323650", "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.1:c.1120G>T", "LRG_5t3:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Glu374Ter", "hgvsWellDefined": "NP_001230175.1:p.Glu374_Ser804delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018465" }, { "@id": "http://reg.genome.network/allele/PA645426022", "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.3:c.1120G>T", "LRG_5t1:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Glu374Ter", "hgvsWellDefined": "NP_071751.3:p.Glu374_Leu736delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037284" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "G", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_005271110.2:c.112G>T" ], "proteinEffect": { "hgvs": "XP_005271167.1:p.Glu38Ter", "hgvsWellDefined": "XP_005271167.1:p.Glu38_Leu400delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066770" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541947.1:c.145G>T" ], "proteinEffect": { "hgvs": "XP_011540249.1:p.Glu49Ter", "hgvsWellDefined": "XP_011540249.1:p.Glu49_Leu411delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108881" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541948.1:c.145G>T" ], "proteinEffect": { "hgvs": "XP_011540250.1:p.Glu49Ter", "hgvsWellDefined": "XP_011540250.1:p.Glu49_Leu411delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108882" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541949.1:c.142G>T" ], "proteinEffect": { "hgvs": "XP_011540251.1:p.Glu48Ter", "hgvsWellDefined": "XP_011540251.1:p.Glu48_Leu410delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108883" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.1:n.1177G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140321" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002051.2:c.145G>T" ], "proteinEffect": { "hgvs": "XP_016857540.1:p.Glu49Ter", "hgvsWellDefined": "XP_016857540.1:p.Glu49_Leu411delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558080" }, { "coordinates": [ { "allele": "T", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002052.2:c.142G>T" ], "proteinEffect": { "hgvs": "XP_016857541.1:p.Glu48Ter", "hgvsWellDefined": "XP_016857541.1:p.Glu48_Leu410delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558081" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.2:n.1177G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614447" }, { "@id": "http://reg.genome.network/allele/PA645426022", "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.4:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Glu374Ter", "hgvsWellDefined": "NP_071751.3:p.Glu374_Leu736delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1120G>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1120G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Glu374Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Glu374Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825929239", "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.2:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Glu374Ter", "hgvsWellDefined": "NP_001139761.1:p.Glu374_Arg697delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712912" }, { "@id": "http://reg.genome.network/allele/PA2826323650", "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.2:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Glu374Ter", "hgvsWellDefined": "NP_001230175.1:p.Glu374_Ser804delinsLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714457" } ], "type": "nucleotide" }