{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115031", "communityStandardTitle": [ "NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5853519", "active": true, "id": "COSM5853519" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5853520", "active": true, "id": "COSM5853520" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16541[alleleid]", "alleleId": 16541, "preferredName": "NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1502", "RCV": [ "RCV000001567", "RCV000579187" ], "variationId": 1502 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73953636G>A?assembly=hg19", "id": "chr17:g.73953636G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75957555G>A?assembly=hg38", "id": "chr17:g.75957555G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118204093", "rs": 118204093 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75957555-G-A?dataset=gnomad_r4", "id": "17-75957555-G-A", "variant": "17:75957555 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75957555, "referenceAllele": "G", "start": 75957554 } ], "hgvs": [ "NC_000017.11:g.75957555G>A", "CM000679.2:g.75957555G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73953636, "referenceAllele": "G", "start": 73953635 } ], "hgvs": [ "NC_000017.10:g.73953636G>A", "CM000679.1:g.73953636G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71465231, "referenceAllele": "G", "start": 71465230 } ], "hgvs": [ "NC_000017.9:g.71465231G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 26809, "referenceAllele": "C", "start": 26808 } ], "hgvs": [ "NG_008190.1:g.26809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000932" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.9:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Arg148Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904355" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.10:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Arg148Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.442C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.442C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Arg148Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Arg148Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000293217.9:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000293217.4:p.Arg148Ter", "hgvsWellDefined": "ENSP00000293217.4:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253862" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000301608.8:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000301608.4:p.Arg148Ter", "hgvsWellDefined": "ENSP00000301608.4:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255034" }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000572047.5:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000459936.1:n.616C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS382762" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000573078.5:c.603C>T" ], "proteinEffect": { "hgvs": "ENSP00000458325.1:p.Phe201=" }, "referenceSequence": "http://reg.genome.network/refseq/RS383170" }, { "coordinates": [ { "allele": "T", "end": 534, "endIntronDirection": "-", "endIntronOffset": 1607, "referenceAllele": "C", "start": 534, "startIntronDirection": "-", "startIntronOffset": 1608 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000588176.5:c.431-1608C>T" ], "proteinEffect": { "hgvs": "ENSP00000466210.1:n.431-1608C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390601" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000589301.1:c.*239C>T" ], "proteinEffect": { "hgvs": "ENSP00000468435.1:n.*239C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391396" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "ENST00000591857.5:n.460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393174" }, { "@id": "http://reg.genome.network/allele/PA2826153645", "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Arg110Ter", "hgvsWellDefined": "NP_001171968.1:p.Arg110_Leu622delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016086" }, { "@id": "http://reg.genome.network/allele/PA115032", "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.6:c.442C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Arg148Ter", "hgvsWellDefined": "NP_004026.2:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029225" }, { "@id": "http://reg.genome.network/allele/PA115033", "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.5:c.442C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Arg148Ter", "hgvsWellDefined": "NP_009223.2:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032210" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Arg80Ter", "hgvsWellDefined": "XP_011523170.1:p.Arg80_Leu592delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091988" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.1:c.34C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Arg12Ter", "hgvsWellDefined": "XP_011523171.1:p.Arg12_Leu524delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091989" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524868.3:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011523170.1:p.Arg80Ter", "hgvsWellDefined": "XP_011523170.1:p.Arg80_Leu592delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547611" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "XM_011524869.3:c.34C>T" ], "proteinEffect": { "hgvs": "XP_011523171.1:p.Arg12Ter", "hgvsWellDefined": "XP_011523171.1:p.Arg12_Leu524delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547612" }, { "@id": "http://reg.genome.network/allele/PA115032", "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_004035.7:c.442C>T" ], "proteinEffect": { "hgvs": "NP_004026.2:p.Arg148Ter", "hgvsWellDefined": "NP_004026.2:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666279", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000293217.10:c.442C>T" }, "RefSeq": { "hgvs": "NM_004035.7:c.442C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000293217.4:p.Arg148Ter" }, "RefSeq": { "hgvs": "NP_004026.2:p.Arg148Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826153645", "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_001185039.2:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001171968.1:p.Arg110Ter", "hgvsWellDefined": "NP_001171968.1:p.Arg110_Leu622delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679063" }, { "@id": "http://reg.genome.network/allele/PA115033", "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN000119", "geneNCBI_id": 51, "geneSymbol": "ACOX1", "hgvs": [ "NM_007292.6:c.442C>T" ], "proteinEffect": { "hgvs": "NP_009223.2:p.Arg148Ter", "hgvsWellDefined": "NP_009223.2:p.Arg148_Leu660delinsGlyLeuGluThrThrAlaThrTyrAspProGluThrGlnGluPheIleLeuAsnSerProThrValThrSerIleLysTrpTrpProGlyGlyLeuGlyLysThrSerAsnHisAlaIleValLeuAlaGlnLeuIleThrLysGlyLysCysTyrGlyLeuHisAlaPheIleValProIleArgGluIleGlyThrHisLysProLeuProGlyIleThrValGlyAspIleGlyProLysPheGlyTyrAspGluIleAspAsnGlyTyrLeuLysMetAspAsnHisArgIleProArgGluAsnMetLeuMetLysTyrAlaGlnValLysProAspGlyThrTyrValLysProLeuSerAsnLysLeuThrTyrGlyThrMetValPheValArgSerPheLeuValGlyGluAlaAlaArgAlaLeuSerLysAlaCysThrIleAlaIleArgTyrSerAlaValArgHisGlnSerGluIleLysProGlyGluProGluProGlnIleLeuAspPheGlnThrGlnGlnTyrLysLeuPheProLeuLeuAlaThrAlaTyrAlaPheGlnPheValGlyAlaTyrMetLysGluThrTyrHisArgIleAsnGluGlyIleGlyGlnGlyAspLeuSerGluLeuProGluLeuHisAlaLeuThrAlaGlyLeuLysAlaPheThrSerTrpThrAlaAsnThrGlyIleGluAlaCysArgMetAlaCysGlyGlyHisGlyTyrSerHisCysSerGlyLeuProAsnIleTyrValAsnPheThrProSerCysThrPheGluGlyGluAsnThrValMetMetLeuGlnThrAlaArgPheLeuMetLysSerTyrAspGlnValHisSerGlyLysLeuValCysGlyMetValSerTyrLeuAsnAspLeuProSerGlnArgIleGlnProGlnGlnValAlaValTrpProThrMetValAspIleAsnSerProGluSerLeuThrGluAlaTyrLysLeuArgAlaAlaArgLeuValGluIleAlaAlaLysAsnLeuGlnLysGluValIleHisArgLysSerLysGluValAlaTrpAsnLeuThrSerValAspLeuValArgAlaSerGluAlaHisCysHisTyrValValValLysLeuPheSerGluLysLeuLeuLysIleGlnAspLysAlaIleGlnAlaValLeuArgSerLeuCysLeuLeuTyrSerLeuTyrGlyIleSerGlnAsnAlaGlyAspPheLeuGlnGlySerIleMetThrGluProGlnIleThrGlnValAsnGlnArgValLysGluLeuLeuThrLeuIleArgSerAspAlaValAlaLeuValAspAlaPheAspPheGlnAspValThrLeuGlySerValLeuGlyArgTyrAspGlyAsnValTyrGluAsnLeuPheGluTrpAlaLysAsnSerProLeuAsnLysAlaGluValHisGluSerTyrLysHisLeuLysSerLeuGlnSerLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696960" } ], "type": "nucleotide" }