{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401083803", "communityStandardTitle": [ "NM_004035.7(ACOX1):c.139C>T (p.Gln47Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3136125[alleleid]", "alleleId": 3136125, "preferredName": "NM_004035.7(ACOX1):c.139C>T (p.Gln47Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2972345", "RCV": [ "RCV003835471" ], "variationId": 2972345 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73974745G>A?assembly=hg19", "id": "chr17:g.73974745G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75978664G>A?assembly=hg38", "id": "chr17:g.75978664G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2546098054", "rs": 2546098054 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75978664-G-A?dataset=gnomad_r4", "id": "17-75978664-G-A", "variant": "17:75978664 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75978664, "referenceAllele": "G", "start": 75978663 } ], "hgvs": [ "NC_000017.11:g.75978664G>A", "CM000679.2:g.75978664G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73974745, "referenceAllele": "G", "start": 73974744 } ], "hgvs": [ "NC_000017.10:g.73974745G>A", "CM000679.1:g.73974745G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71486340, "referenceAllele": "G", "start": 71486339 } ], "hgvs": [ "NC_000017.9:g.71486340G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 5700, "referenceAllele": "C", "start": 5699 } ], "hgvs": [ "NG_008190.1:g.5700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000932" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.9:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Gln47Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904355" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.10:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Gln47Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.139C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.139C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Gln47Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Gln47Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.9:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Gln47Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253862" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.8:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Gln47Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255034" }, { "coordinates": [ { "allele": "T", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000572047.5:c.313C>T" ], "proteinEffect": { "hgvs": "ENSP00000459936.1:n.313C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS382762" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "C", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000573078.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000458325.1:p.Gln47Ter", "hgvsWellDefined": "ENSP00000458325.1:p.Gln47_Leu223delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisValLeuCysThrGluGlyGlyLeuSerLeuTrpIlePheThrTrpAlaCysSerCysProProCysPheThrArgGlnLeuArgSerSerArgSerAlaSerSerCysProProGlyThrTrpArgSerLeuAlaLeuMetProArgGlnArgTrpValMetGluLeuThrPheGluAlaTrpLysProGlnProArgMetThrLeuLysProArgSerSerPheSerThrValLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383170" }, { "coordinates": [ { "allele": "T", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000576743.1:c.30C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS384590" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000588176.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000466210.1:p.Gln47Ter", "hgvsWellDefined": "ENSP00000466210.1:p.Gln47_Leu157del" }, "referenceSequence": "http://reg.genome.network/refseq/RS390601" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000589301.1:c.*97C>T" ], "proteinEffect": { "hgvs": "ENSP00000468435.1:n.*97C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391396" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000591857.5:n.157C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393174" }, { "coordinates": [ { "allele": "T", "end": 111, "referenceAllele": "C", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000592329.1:n.111C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393490" }, { "@id": "http://reg.genome.network/allele/PA2741845540", "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.1:c.25C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Gln9Ter", "hgvsWellDefined": "NP_001171968.1:p.Gln9_Leu622delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016086" }, { "@id": "http://reg.genome.network/allele/PA2829512934", "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.6:c.139C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Gln47Ter", "hgvsWellDefined": "NP_004026.2:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029225" }, { "@id": "http://reg.genome.network/allele/PA2829674454", "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.5:c.139C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Gln47Ter", "hgvsWellDefined": "NP_009223.2:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032210" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.1:c.-227C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:n.-227C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091988" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.1:c.-109C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:n.-109C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091989" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.3:c.-227C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:n.-227C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547611" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.3:c.-109C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:n.-109C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547612" }, { "@id": "http://reg.genome.network/allele/PA2829512934", "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.7:c.139C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Gln47Ter", "hgvsWellDefined": "NP_004026.2:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666279", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.139C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.139C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Gln47Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Gln47Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741845540", "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.2:c.25C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Gln9Ter", "hgvsWellDefined": "NP_001171968.1:p.Gln9_Leu622delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysAsnPheValHisArgGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679063" }, { "@id": "http://reg.genome.network/allele/PA2829674454", "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "C", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.6:c.139C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Gln47Ter", "hgvsWellDefined": "NP_009223.2:p.Gln47_Leu660delinsHisGluAspLeuAsnPheLeuThrArgSerGlnArgTyrGluValAlaValArgLysSerAlaIleMetValLysLysMetArgGluPheGlyIleAlaAspProAspGluIleMetTrpPheLysLysLeuHisLeuValAsnPheValGluProValGlyLeuAsnTyrSerMetPheIleProThrLeuLeuAsnGlnGlyThrThrAlaGlnLysGluLysTrpLeuLeuSerSerLysGlyLeuGlnIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696960" } ], "type": "nucleotide" }