{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401069254", "communityStandardTitle": [ "NM_004035.7(ACOX1):c.468T>A (p.Tyr156Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1406188[alleleid]", "alleleId": 1406188, "preferredName": "NM_004035.7(ACOX1):c.468T>A (p.Tyr156Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459059", "RCV": [ "RCV001975129" ], "variationId": 1459059 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73953610A>T?assembly=hg19", "id": "chr17:g.73953610A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75957529A>T?assembly=hg38", "id": "chr17:g.75957529A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/542410903", "rs": 542410903 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75957529, "referenceAllele": "A", "start": 75957528 } ], "hgvs": [ "NC_000017.11:g.75957529A>T", "CM000679.2:g.75957529A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 73953610, "referenceAllele": "A", "start": 73953609 } ], "hgvs": [ "NC_000017.10:g.73953610A>T", "CM000679.1:g.73953610A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 71465205, "referenceAllele": "A", "start": 71465204 } ], "hgvs": [ "NC_000017.9:g.71465205A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 26835, "referenceAllele": "T", "start": 26834 } ], "hgvs": [ "NG_008190.1:g.26835T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000932" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.9:c.468T>A" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Tyr156Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904355" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.10:c.468T>A" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Tyr156Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.468T>A" }, "RefSeq": { "hgvs": "NM_004035.7:c.468T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Tyr156Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Tyr156Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "T", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.9:c.468T>A" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Tyr156Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253862" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "T", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.8:c.468T>A" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Tyr156Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255034" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000572047.5:c.642T>A" ], "proteinEffect": { "hgvs": "ENSP00000459936.1:n.642T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382762" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000573078.5:c.629T>A" ], "proteinEffect": { "hgvs": "ENSP00000458325.1:p.Met210Lys", "hgvsWellDefined": "ENSP00000458325.1:p.Met210Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS383170" }, { "coordinates": [ { "allele": "A", "end": 534, "endIntronDirection": "-", "endIntronOffset": 1581, "referenceAllele": "T", "start": 534, "startIntronDirection": "-", "startIntronOffset": 1582 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000588176.5:c.431-1582T>A" ], "proteinEffect": { "hgvs": "ENSP00000466210.1:n.431-1582T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390601" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "T", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000589301.1:c.*265T>A" ], "proteinEffect": { "hgvs": "ENSP00000468435.1:n.*265T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS391396" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "T", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000591857.5:n.486T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393174" }, { "@id": "http://reg.genome.network/allele/PA2826153655", "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "T", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.1:c.354T>A" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Tyr118Ter", "hgvsWellDefined": "NP_001171968.1:p.Tyr118_Leu622delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016086" }, { "@id": "http://reg.genome.network/allele/PA2829512999", "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "T", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.6:c.468T>A" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Tyr156Ter", "hgvsWellDefined": "NP_004026.2:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029225" }, { "@id": "http://reg.genome.network/allele/PA2573252709", "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "T", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.5:c.468T>A" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Tyr156Ter", "hgvsWellDefined": "NP_009223.2:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032210" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "T", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.1:c.264T>A" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011523170.1:p.Tyr88_Leu592delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091988" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "T", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.1:c.60T>A" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Tyr20Ter", "hgvsWellDefined": "XP_011523171.1:p.Tyr20_Leu524delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091989" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "T", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.3:c.264T>A" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011523170.1:p.Tyr88_Leu592delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547611" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "T", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.3:c.60T>A" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Tyr20Ter", "hgvsWellDefined": "XP_011523171.1:p.Tyr20_Leu524delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547612" }, { "@id": "http://reg.genome.network/allele/PA2829512999", "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.7:c.468T>A" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Tyr156Ter", "hgvsWellDefined": "NP_004026.2:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666279", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.468T>A" }, "RefSeq": { "hgvs": "NM_004035.7:c.468T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Tyr156Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Tyr156Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826153655", "coordinates": [ { "allele": "A", "end": 735, "referenceAllele": "T", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.2:c.354T>A" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Tyr118Ter", "hgvsWellDefined": "NP_001171968.1:p.Tyr118_Leu622delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679063" }, { "@id": "http://reg.genome.network/allele/PA2573252709", "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.6:c.468T>A" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Tyr156Ter", "hgvsWellDefined": "NP_009223.2:p.Tyr156_Leu660delinsAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696960" } ], "type": "nucleotide" }