{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339957967", "communityStandardTitle": [ "NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557321[alleleid]", "alleleId": 557321, "preferredName": "NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566925", "RCV": [ "RCV000686866" ], "variationId": 566925 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.43220837T>A?assembly=hg19", "id": "chr1:g.43220837T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.42755166T>A?assembly=hg38", "id": "chr1:g.42755166T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1557569037", "rs": 1557569037 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42755166, "referenceAllele": "T", "start": 42755165 } ], "hgvs": [ "NC_000001.11:g.42755166T>A", "CM000663.2:g.42755166T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 43220837, "referenceAllele": "T", "start": 43220836 } ], "hgvs": [ "NC_000001.10:g.43220837T>A", "CM000663.1:g.43220837T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42993424, "referenceAllele": "T", "start": 42993423 } ], "hgvs": [ "NC_000001.9:g.42993424T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 16919, "referenceAllele": "A", "start": 16918 } ], "hgvs": [ "NG_008123.1:g.16919A>T", "LRG_5:g.16919A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000868" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.10:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Lys408Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Lys408_Leu736delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744408", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1222A>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1222A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Lys408Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Lys408Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "A", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000236040.8:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000236040.4:p.Lys408Ter", "hgvsWellDefined": "ENSP00000236040.4:p.Lys408_Ser804delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248959" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "A", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.9:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Lys408Ter", "hgvsWellDefined": "ENSP00000296388.5:p.Lys408_Leu736delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254287" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "A", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000397054.7:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000380245.3:p.Lys408Ter", "hgvsWellDefined": "ENSP00000380245.3:p.Lys408_Arg697delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277579" }, { "coordinates": [ { "allele": "T", "end": 44, "referenceAllele": "A", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000431412.3:c.44A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS291606" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000460031.5:n.1240A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304863" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "A", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000463465.1:n.711A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307494" }, { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "A", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000495874.5:n.1328A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332482" }, { "@id": "http://reg.genome.network/allele/PA2825929258", "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "A", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.1:c.1222A>T", "LRG_5t2:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Lys408Ter", "hgvsWellDefined": "NP_001139761.1:p.Lys408_Arg697delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013945" }, { "@id": "http://reg.genome.network/allele/PA2826323670", "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "A", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.1:c.1222A>T", "LRG_5t3:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Lys408Ter", "hgvsWellDefined": "NP_001230175.1:p.Lys408_Ser804delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018465" }, { "@id": "http://reg.genome.network/allele/PA891850963", "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "A", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.3:c.1222A>T", "LRG_5t1:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Lys408Ter", "hgvsWellDefined": "NP_071751.3:p.Lys408_Leu736delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037284" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "A", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_005271110.2:c.214A>T" ], "proteinEffect": { "hgvs": "XP_005271167.1:p.Lys72Ter", "hgvsWellDefined": "XP_005271167.1:p.Lys72_Leu400delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066770" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "A", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541947.1:c.247A>T" ], "proteinEffect": { "hgvs": "XP_011540249.1:p.Lys83Ter", "hgvsWellDefined": "XP_011540249.1:p.Lys83_Leu411delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108881" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "A", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541948.1:c.247A>T" ], "proteinEffect": { "hgvs": "XP_011540250.1:p.Lys83Ter", "hgvsWellDefined": "XP_011540250.1:p.Lys83_Leu411delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108882" }, { "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541949.1:c.244A>T" ], "proteinEffect": { "hgvs": "XP_011540251.1:p.Lys82Ter", "hgvsWellDefined": "XP_011540251.1:p.Lys82_Leu410delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108883" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.1:n.1279A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140321" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "A", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002051.2:c.247A>T" ], "proteinEffect": { "hgvs": "XP_016857540.1:p.Lys83Ter", "hgvsWellDefined": "XP_016857540.1:p.Lys83_Leu411delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558080" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "A", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002052.2:c.244A>T" ], "proteinEffect": { "hgvs": "XP_016857541.1:p.Lys82Ter", "hgvsWellDefined": "XP_016857541.1:p.Lys82_Leu410delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558081" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.2:n.1279A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614447" }, { "@id": "http://reg.genome.network/allele/PA891850963", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.4:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Lys408Ter", "hgvsWellDefined": "NP_071751.3:p.Lys408_Leu736delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1222A>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1222A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Lys408Ter" }, "RefSeq": { "hgvs": "NP_071751.3:p.Lys408Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825929258", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.2:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Lys408Ter", "hgvsWellDefined": "NP_001139761.1:p.Lys408_Arg697delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712912" }, { "@id": "http://reg.genome.network/allele/PA2826323670", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.2:c.1222A>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Lys408Ter", "hgvsWellDefined": "NP_001230175.1:p.Lys408_Ser804delinsSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714457" } ], "type": "nucleotide" }