{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401071902", "communityStandardTitle": [ "NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677516[alleleid]", "alleleId": 1677516, "preferredName": "NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685498", "RCV": [ "RCV002249225" ], "variationId": 1685498 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73956446G>A?assembly=hg19", "id": "chr17:g.73956446G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75960365G>A?assembly=hg38", "id": "chr17:g.75960365G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780675610", "rs": 780675610 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75960365-G-A?dataset=gnomad_r4", "id": "17-75960365-G-A", "variant": "17:75960365 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75960365, "referenceAllele": "G", "start": 75960364 } ], "hgvs": [ "NC_000017.11:g.75960365G>A", "CM000679.2:g.75960365G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73956446, "referenceAllele": "G", "start": 73956445 } ], "hgvs": [ "NC_000017.10:g.73956446G>A", "CM000679.1:g.73956446G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71468041, "referenceAllele": "G", "start": 71468040 } ], "hgvs": [ "NC_000017.9:g.71468041G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 23999, "referenceAllele": "C", "start": 23998 } ], "hgvs": [ "NG_008190.1:g.23999C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000932" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 523, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 523, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.9:c.431-2799C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:n.431-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS904355" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.10:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Arg94Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Arg94_Leu660delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.280C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.280C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Arg94Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Arg94Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.9:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Arg94Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Arg94_Leu660delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253862" }, { "coordinates": [ { "allele": "T", "end": 491, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 491, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.8:c.431-2799C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:n.431-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS255034" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000572047.5:c.454C>T" ], "proteinEffect": { "hgvs": "ENSP00000459936.1:n.454C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS382762" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000573078.5:c.441C>T" ], "proteinEffect": { "hgvs": "ENSP00000458325.1:p.Thr147=" }, "referenceSequence": "http://reg.genome.network/refseq/RS383170" }, { "coordinates": [ { "allele": "T", "end": 534, "endIntronDirection": "-", "endIntronOffset": 4417, "referenceAllele": "C", "start": 534, "startIntronDirection": "-", "startIntronOffset": 4418 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000588176.5:c.431-4418C>T" ], "proteinEffect": { "hgvs": "ENSP00000466210.1:n.431-4418C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390601" }, { "coordinates": [ { "allele": "T", "end": 498, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 498, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000589301.1:c.*228-2799C>T" ], "proteinEffect": { "hgvs": "ENSP00000468435.1:n.*228-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391396" }, { "coordinates": [ { "allele": "T", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000591857.5:n.298C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393174" }, { "@id": "http://reg.genome.network/allele/PA2826153621", "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.1:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Arg56Ter", "hgvsWellDefined": "NP_001171968.1:p.Arg56_Leu622delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016086" }, { "@id": "http://reg.genome.network/allele/PA2573232284", "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.6:c.280C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Arg94Ter", "hgvsWellDefined": "NP_004026.2:p.Arg94_Leu660delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029225" }, { "coordinates": [ { "allele": "T", "end": 791, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 791, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.5:c.431-2799C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:n.431-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032210" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.1:c.76C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Arg26Ter", "hgvsWellDefined": "XP_011523170.1:p.Arg26_Leu592delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091988" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 329, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.1:c.23-2799C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:n.23-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091989" }, { "coordinates": [ { "allele": "T", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.3:c.76C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Arg26Ter", "hgvsWellDefined": "XP_011523170.1:p.Arg26_Leu592delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547611" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 329, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.3:c.23-2799C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:n.23-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547612" }, { "@id": "http://reg.genome.network/allele/PA2573232284", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.7:c.280C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Arg94Ter", "hgvsWellDefined": "NP_004026.2:p.Arg94_Leu660delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666279", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.280C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.280C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Arg94Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Arg94Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826153621", "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.2:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Arg56Ter", "hgvsWellDefined": "NP_001171968.1:p.Arg56_Leu622delinsGlyArgProGluProLeuAspLeuHisLeuGlyMetPheLeuProThrLeuLeuHisGlnAlaThrAlaGluGlnGlnGluArgPhePheMetProAlaTrpAsnLeuGluIleIleGlyThrTyrAlaGlnThrGluMetGlyHisGlyThrHisLeuArgGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679063" }, { "coordinates": [ { "allele": "T", "end": 523, "endIntronDirection": "-", "endIntronOffset": 2798, "referenceAllele": "C", "start": 523, "startIntronDirection": "-", "startIntronOffset": 2799 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.6:c.431-2799C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:n.431-2799C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696960" } ], "type": "nucleotide" }