{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414617518", "communityStandardTitle": [ "NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5772988", "active": true, "id": "COSM5772988" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512586[alleleid]", "alleleId": 512586, "preferredName": "NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521093", "RCV": [ "RCV000680054", "RCV004025269" ], "variationId": 521093 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128709135C>T?assembly=hg19", "id": "chrX:g.128709135C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129575158C>T?assembly=hg38", "id": "chrX:g.129575158C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1182741031", "rs": 1182741031 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 129575158, "referenceAllele": "C", "start": 129575157 } ], "hgvs": [ "NC_000023.11:g.129575158C>T", "CM000685.2:g.129575158C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128709135, "referenceAllele": "C", "start": 128709134 } ], "hgvs": [ "NC_000023.10:g.128709135C>T", "CM000685.1:g.128709135C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128536816, "referenceAllele": "C", "start": 128536815 } ], "hgvs": [ "NC_000023.9:g.128536816C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 39884, "referenceAllele": "C", "start": 39883 } ], "hgvs": [ "NG_008638.1:g.39884C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*1913C>T" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*1913C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "T", "end": 1738, "referenceAllele": "C", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.1738C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "T", "end": 1802, "referenceAllele": "C", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Arg541Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Arg542_Asp901delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1621C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1621C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Arg541Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Arg541Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.1669C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646914.1:c.732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769135" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.1272C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Arg541Ter", "hgvsWellDefined": "ENSP00000349635.5:p.Arg542_Asp893delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Arg541Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Arg542_Asp901delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA658804835", "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.1621C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Arg541Ter", "hgvsWellDefined": "NP_000267.2:p.Arg542_Asp901delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829332025", "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.1621C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Arg541Ter", "hgvsWellDefined": "NP_001578.2:p.Arg542_Asp893delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.1150C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Arg384Ter", "hgvsWellDefined": "XP_005262479.1:p.Arg385_Asp744delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.1624C>T" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Arg542Ter", "hgvsWellDefined": "XP_011529644.1:p.Arg543_Asp902delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "T", "end": 1716, "referenceAllele": "C", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.1624C>T" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Arg542Ter", "hgvsWellDefined": "XP_011529645.1:p.Arg543_Asp894delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "C", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Arg493Ter", "hgvsWellDefined": "XP_011529646.1:p.Arg494_Asp853delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Arg493Ter", "hgvsWellDefined": "XP_011529647.1:p.Arg494_Asp853delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "T", "end": 1718, "referenceAllele": "C", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.1624C>T" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Arg542Ter", "hgvsWellDefined": "XP_011529648.1:p.Arg543_Arg832delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA916022628", "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.1624C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Arg542Ter", "hgvsWellDefined": "NP_001305713.1:p.Arg543_Asp902delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.1150C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Arg384Ter", "hgvsWellDefined": "XP_005262479.1:p.Arg385_Asp744delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Arg493Ter", "hgvsWellDefined": "XP_011529646.1:p.Arg494_Asp853delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "T", "end": 1702, "referenceAllele": "C", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Arg493Ter", "hgvsWellDefined": "XP_011529647.1:p.Arg494_Asp853delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "C", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.1621C>T" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Arg541Ter", "hgvsWellDefined": "XP_016885043.1:p.Arg542_Arg831delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA658804835", "coordinates": [ { "allele": "T", "end": 1802, "referenceAllele": "C", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.1621C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Arg541Ter", "hgvsWellDefined": "NP_000267.2:p.Arg542_Asp901delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1621C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1621C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Arg541Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Arg541Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916022628", "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.1624C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Arg542Ter", "hgvsWellDefined": "NP_001305713.1:p.Arg543_Asp902delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829332025", "coordinates": [ { "allele": "T", "end": 1802, "referenceAllele": "C", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.1621C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Arg541Ter", "hgvsWellDefined": "NP_001578.2:p.Arg542_Asp893delinsTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }