{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414616343", "communityStandardTitle": [ "NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2076725[alleleid]", "alleleId": 2076725, "preferredName": "NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2022661", "RCV": [ "RCV002875659" ], "variationId": 2022661 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128703266T>C?assembly=hg19", "id": "chrX:g.128703266T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129569289T>C?assembly=hg38", "id": "chrX:g.129569289T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2521906144", "rs": 2521906144 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 129569289, "referenceAllele": "T", "start": 129569288 } ], "hgvs": [ "NC_000023.11:g.129569289T>C", "CM000685.2:g.129569289T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 128703266, "referenceAllele": "T", "start": 128703265 } ], "hgvs": [ "NC_000023.10:g.128703266T>C", "CM000685.1:g.128703266T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 128530947, "referenceAllele": "T", "start": 128530946 } ], "hgvs": [ "NC_000023.9:g.128530947T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 34015, "referenceAllele": "T", "start": 34014 } ], "hgvs": [ "NG_008638.1:g.34015T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2062, "referenceAllele": "T", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*1784T>C" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*1784T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "C", "end": 1609, "referenceAllele": "T", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.1609T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "C", "end": 1673, "referenceAllele": "T", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.1492T>C" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Cys498Arg", "hgvsWellDefined": "ENSP00000360154.4:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1492T>C" }, "RefSeq": { "hgvs": "NM_000276.4:c.1492T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Cys498Arg" }, "RefSeq": { "hgvs": "NP_000267.2:p.Cys498Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 1540, "referenceAllele": "T", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.1540T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "C", "end": 603, "referenceAllele": "T", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646914.1:c.603T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769135" }, { "coordinates": [ { "allele": "C", "end": 1143, "referenceAllele": "T", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.1143T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.1492T>C" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Cys498Arg", "hgvsWellDefined": "ENSP00000349635.5:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.1492T>C" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Cys498Arg", "hgvsWellDefined": "ENSP00000360154.4:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA2825137684", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.1492T>C" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Cys498Arg", "hgvsWellDefined": "NP_000267.2:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331946", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.1492T>C" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Cys498Arg", "hgvsWellDefined": "NP_001578.2:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "C", "end": 1464, "referenceAllele": "T", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.1021T>C" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Cys341Arg", "hgvsWellDefined": "XP_005262479.1:p.Cys341Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "C", "end": 1674, "referenceAllele": "T", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.1495T>C" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Cys499Arg", "hgvsWellDefined": "XP_011529644.1:p.Cys499Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "C", "end": 1587, "referenceAllele": "T", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.1495T>C" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Cys499Arg", "hgvsWellDefined": "XP_011529645.1:p.Cys499Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "C", "end": 1566, "referenceAllele": "T", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.1348T>C" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Cys450Arg", "hgvsWellDefined": "XP_011529646.1:p.Cys450Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "C", "end": 1582, "referenceAllele": "T", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.1348T>C" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Cys450Arg", "hgvsWellDefined": "XP_011529647.1:p.Cys450Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "C", "end": 1589, "referenceAllele": "T", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.1495T>C" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Cys499Arg", "hgvsWellDefined": "XP_011529648.1:p.Cys499Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA2580202384", "coordinates": [ { "allele": "C", "end": 1680, "referenceAllele": "T", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.1495T>C" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Cys499Arg", "hgvsWellDefined": "NP_001305713.1:p.Cys499Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "C", "end": 1464, "referenceAllele": "T", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.1021T>C" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Cys341Arg", "hgvsWellDefined": "XP_005262479.1:p.Cys341Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "C", "end": 1570, "referenceAllele": "T", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.1348T>C" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Cys450Arg", "hgvsWellDefined": "XP_011529646.1:p.Cys450Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "C", "end": 1573, "referenceAllele": "T", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.1348T>C" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Cys450Arg", "hgvsWellDefined": "XP_011529647.1:p.Cys450Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "C", "end": 1588, "referenceAllele": "T", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.1492T>C" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Cys498Arg", "hgvsWellDefined": "XP_016885043.1:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137684", "coordinates": [ { "allele": "C", "end": 1673, "referenceAllele": "T", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.1492T>C" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Cys498Arg", "hgvsWellDefined": "NP_000267.2:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1492T>C" }, "RefSeq": { "hgvs": "NM_000276.4:c.1492T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Cys498Arg" }, "RefSeq": { "hgvs": "NP_000267.2:p.Cys498Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2580202384", "coordinates": [ { "allele": "C", "end": 1676, "referenceAllele": "T", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.1495T>C" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Cys499Arg", "hgvsWellDefined": "NP_001305713.1:p.Cys499Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331946", "coordinates": [ { "allele": "C", "end": 1673, "referenceAllele": "T", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.1492T>C" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Cys498Arg", "hgvsWellDefined": "NP_001578.2:p.Cys498Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }