{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414621105", "communityStandardTitle": [ "NM_000276.4(OCRL):c.1979A>C (p.His660Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=677064[alleleid]", "alleleId": 677064, "preferredName": "NM_000276.4(OCRL):c.1979A>C (p.His660Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689471", "RCV": [ "RCV000850186" ], "variationId": 689471 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128710393A>C?assembly=hg19", "id": "chrX:g.128710393A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129576416A>C?assembly=hg38", "id": "chrX:g.129576416A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1602802640", "rs": 1602802640 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 129576416, "referenceAllele": "A", "start": 129576415 } ], "hgvs": [ "NC_000023.11:g.129576416A>C", "CM000685.2:g.129576416A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 128710393, "referenceAllele": "A", "start": 128710392 } ], "hgvs": [ "NC_000023.10:g.128710393A>C", "CM000685.1:g.128710393A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 128538074, "referenceAllele": "A", "start": 128538073 } ], "hgvs": [ "NC_000023.9:g.128538074A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 41142, "referenceAllele": "A", "start": 41141 } ], "hgvs": [ "NG_008638.1:g.41142A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2549, "referenceAllele": "A", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*2271A>C" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*2271A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "C", "end": 2096, "referenceAllele": "A", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.2096A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "C", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.1979A>C" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.His660Pro", "hgvsWellDefined": "ENSP00000360154.4:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1979A>C" }, "RefSeq": { "hgvs": "NM_000276.4:c.1979A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.His660Pro" }, "RefSeq": { "hgvs": "NP_000267.2:p.His660Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2027, "referenceAllele": "A", "start": 2026 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.2027A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "C", "end": 1156, "referenceAllele": "A", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646914.1:c.1156A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769135" }, { "coordinates": [ { "allele": "C", "end": 1530, "referenceAllele": "A", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.1530A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "C", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.1979A>C" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.His660Pro", "hgvsWellDefined": "ENSP00000349635.5:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "C", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.1979A>C" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.His660Pro", "hgvsWellDefined": "ENSP00000360154.4:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA2825137749", "coordinates": [ { "allele": "C", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.1979A>C" ], "proteinEffect": { "hgvs": "NP_000267.2:p.His660Pro", "hgvsWellDefined": "NP_000267.2:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829332083", "coordinates": [ { "allele": "C", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.1979A>C" ], "proteinEffect": { "hgvs": "NP_001578.2:p.His660Pro", "hgvsWellDefined": "NP_001578.2:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "C", "end": 1951, "referenceAllele": "A", "start": 1950 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.1508A>C" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.His503Pro", "hgvsWellDefined": "XP_005262479.1:p.His503Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "C", "end": 2161, "referenceAllele": "A", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.1982A>C" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.His661Pro", "hgvsWellDefined": "XP_011529644.1:p.His661Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "C", "end": 2074, "referenceAllele": "A", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.1982A>C" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.His661Pro", "hgvsWellDefined": "XP_011529645.1:p.His661Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "C", "end": 2053, "referenceAllele": "A", "start": 2052 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.1835A>C" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.His612Pro", "hgvsWellDefined": "XP_011529646.1:p.His612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "C", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.1835A>C" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.His612Pro", "hgvsWellDefined": "XP_011529647.1:p.His612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "C", "end": 2076, "referenceAllele": "A", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.1982A>C" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.His661Pro", "hgvsWellDefined": "XP_011529648.1:p.His661Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA916022632", "coordinates": [ { "allele": "C", "end": 2167, "referenceAllele": "A", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.1982A>C" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.His661Pro", "hgvsWellDefined": "NP_001305713.1:p.His661Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "C", "end": 1951, "referenceAllele": "A", "start": 1950 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.1508A>C" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.His503Pro", "hgvsWellDefined": "XP_005262479.1:p.His503Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "C", "end": 2057, "referenceAllele": "A", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.1835A>C" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.His612Pro", "hgvsWellDefined": "XP_011529646.1:p.His612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "C", "end": 2060, "referenceAllele": "A", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.1835A>C" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.His612Pro", "hgvsWellDefined": "XP_011529647.1:p.His612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "C", "end": 2075, "referenceAllele": "A", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.1979A>C" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.His660Pro", "hgvsWellDefined": "XP_016885043.1:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137749", "coordinates": [ { "allele": "C", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.1979A>C" ], "proteinEffect": { "hgvs": "NP_000267.2:p.His660Pro", "hgvsWellDefined": "NP_000267.2:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1979A>C" }, "RefSeq": { "hgvs": "NM_000276.4:c.1979A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.His660Pro" }, "RefSeq": { "hgvs": "NP_000267.2:p.His660Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA916022632", "coordinates": [ { "allele": "C", "end": 2163, "referenceAllele": "A", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.1982A>C" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.His661Pro", "hgvsWellDefined": "NP_001305713.1:p.His661Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829332083", "coordinates": [ { "allele": "C", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.1979A>C" ], "proteinEffect": { "hgvs": "NP_001578.2:p.His660Pro", "hgvsWellDefined": "NP_001578.2:p.His660Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }