{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401081989", "communityStandardTitle": [ "NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2158880[alleleid]", "alleleId": 2158880, "preferredName": "NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2104874", "RCV": [ "RCV003031607" ], "variationId": 2104874 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73974624C>T?assembly=hg19", "id": "chr17:g.73974624C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75978543C>T?assembly=hg38", "id": "chr17:g.75978543C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2546097846", "rs": 2546097846 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75978543-C-T?dataset=gnomad_r4", "id": "17-75978543-C-T", "variant": "17:75978543 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75978543, "referenceAllele": "C", "start": 75978542 } ], "hgvs": [ "NC_000017.11:g.75978543C>T", "CM000679.2:g.75978543C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 73974624, "referenceAllele": "C", "start": 73974623 } ], "hgvs": [ "NC_000017.10:g.73974624C>T", "CM000679.1:g.73974624C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 71486219, "referenceAllele": "C", "start": 71486218 } ], "hgvs": [ "NC_000017.9:g.71486219C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 5821, "referenceAllele": "G", "start": 5820 } ], "hgvs": [ "NG_008190.1:g.5821G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000932" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.9:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Trp87Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Trp87_Leu660delinsPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904355" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.10:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Trp87Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Trp87_Leu660delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.260G>A" }, "RefSeq": { "hgvs": "NM_004035.7:c.260G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Trp87Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Trp87Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.9:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Trp87Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Trp87_Leu660delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253862" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.8:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Trp87Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Trp87_Leu660delinsPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255034" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000572047.5:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000459936.1:n.434G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382762" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000573078.5:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000458325.1:p.Trp87Ter", "hgvsWellDefined": "ENSP00000458325.1:p.Trp87_Leu223delinsPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisValLeuCysThrGluGlyGlyLeuSerLeuTrpIlePheThrTrpAlaCysSerCysProProCysPheThrArgGlnLeuArgSerSerArgSerAlaSerSerCysProProGlyThrTrpArgSerLeuAlaLeuMetProArgGlnArgTrpValMetGluLeuThrPheGluAlaTrpLysProGlnProArgMetThrLeuLysProArgSerSerPheSerThrValLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383170" }, { "coordinates": [ { "allele": "A", "end": 151, "referenceAllele": "G", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000576743.1:c.151G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384590" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000588176.5:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000466210.1:p.Trp87Ter", "hgvsWellDefined": "ENSP00000466210.1:p.Trp87_Leu157del" }, "referenceSequence": "http://reg.genome.network/refseq/RS390601" }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000589301.1:c.*218G>A" ], "proteinEffect": { "hgvs": "ENSP00000468435.1:n.*218G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS391396" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000591857.5:n.278G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393174" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000592329.1:n.232G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393490" }, { "@id": "http://reg.genome.network/allele/PA2826153616", "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.1:c.146G>A" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Trp49Ter", "hgvsWellDefined": "NP_001171968.1:p.Trp49_Leu622delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016086" }, { "@id": "http://reg.genome.network/allele/PA2829512956", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.6:c.260G>A" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Trp87Ter", "hgvsWellDefined": "NP_004026.2:p.Trp87_Leu660delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029225" }, { "@id": "http://reg.genome.network/allele/PA2580346434", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.5:c.260G>A" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Trp87Ter", "hgvsWellDefined": "NP_009223.2:p.Trp87_Leu660delinsPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032210" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.1:c.-106G>A" ], "proteinEffect": { "hgvs": "XP_011523170.1:n.-106G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS091988" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.1:c.13G>A" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Gly5Ser", "hgvsWellDefined": "XP_011523171.1:p.Gly5Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091989" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.3:c.-106G>A" ], "proteinEffect": { "hgvs": "XP_011523170.1:n.-106G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547611" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.3:c.13G>A" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Gly5Ser", "hgvsWellDefined": "XP_011523171.1:p.Gly5Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547612" }, { "@id": "http://reg.genome.network/allele/PA2829512956", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.7:c.260G>A" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Trp87Ter", "hgvsWellDefined": "NP_004026.2:p.Trp87_Leu660delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666279", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.260G>A" }, "RefSeq": { "hgvs": "NM_004035.7:c.260G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Trp87Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Trp87Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826153616", "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.2:c.146G>A" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Trp49Ter", "hgvsWellDefined": "NP_001171968.1:p.Trp49_Leu622delinsPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679063" }, { "@id": "http://reg.genome.network/allele/PA2580346434", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.6:c.260G>A" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Trp87Ter", "hgvsWellDefined": "NP_009223.2:p.Trp87_Leu660delinsPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696960" } ], "type": "nucleotide" }