{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414551330", "communityStandardTitle": [ "NM_000276.4(OCRL):c.474G>A (p.Met158Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2897415[alleleid]", "alleleId": 2897415, "preferredName": "NM_000276.4(OCRL):c.474G>A (p.Met158Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2746540", "RCV": [ "RCV003509338" ], "variationId": 2746540 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128692644G>A?assembly=hg19", "id": "chrX:g.128692644G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129558667G>A?assembly=hg38", "id": "chrX:g.129558667G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1437975458", "rs": 1437975458 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-128692644-G-A?dataset=gnomad_r2_1", "id": "X-128692644-G-A", "variant": "X:128692644 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-129558667-G-A?dataset=gnomad_r4", "id": "X-129558667-G-A", "variant": "X:129558667 G / A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 129558667, "referenceAllele": "G", "start": 129558666 } ], "hgvs": [ "NC_000023.11:g.129558667G>A", "CM000685.2:g.129558667G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 128692644, "referenceAllele": "G", "start": 128692643 } ], "hgvs": [ "NC_000023.10:g.128692644G>A", "CM000685.1:g.128692644G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 128520325, "referenceAllele": "G", "start": 128520324 } ], "hgvs": [ "NC_000023.9:g.128520325G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 23393, "referenceAllele": "G", "start": 23392 } ], "hgvs": [ "NG_008638.1:g.23393G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000689093.1:c.1551G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831984" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*766G>A" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*766G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Met158Ile", "hgvsWellDefined": "ENSP00000360154.4:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.474G>A" }, "RefSeq": { "hgvs": "NM_000276.4:c.474G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Met158Ile" }, "RefSeq": { "hgvs": "NP_000267.2:p.Met158Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.522G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Met158Ile", "hgvsWellDefined": "ENSP00000349635.5:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Met158Ile", "hgvsWellDefined": "ENSP00000360154.4:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000486673.1:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325422" }, { "@id": "http://reg.genome.network/allele/PA2825137554", "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.474G>A" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Met158Ile", "hgvsWellDefined": "NP_000267.2:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331690", "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Met158Ile", "hgvsWellDefined": "NP_001578.2:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.3G>A" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Met1Ile", "hgvsWellDefined": "XP_005262479.1:p.Met1Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.477G>A" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Met159Ile", "hgvsWellDefined": "XP_011529644.1:p.Met159Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.477G>A" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Met159Ile", "hgvsWellDefined": "XP_011529645.1:p.Met159Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.330G>A" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Met110Ile", "hgvsWellDefined": "XP_011529646.1:p.Met110Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.330G>A" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Met110Ile", "hgvsWellDefined": "XP_011529647.1:p.Met110Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.477G>A" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Met159Ile", "hgvsWellDefined": "XP_011529648.1:p.Met159Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA2741861167", "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.477G>A" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Met159Ile", "hgvsWellDefined": "NP_001305713.1:p.Met159Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.3G>A" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Met1Ile", "hgvsWellDefined": "XP_005262479.1:p.Met1Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "G", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.330G>A" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Met110Ile", "hgvsWellDefined": "XP_011529646.1:p.Met110Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.330G>A" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Met110Ile", "hgvsWellDefined": "XP_011529647.1:p.Met110Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "A", "end": 570, "referenceAllele": "G", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.474G>A" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Met158Ile", "hgvsWellDefined": "XP_016885043.1:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137554", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.474G>A" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Met158Ile", "hgvsWellDefined": "NP_000267.2:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.474G>A" }, "RefSeq": { "hgvs": "NM_000276.4:c.474G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Met158Ile" }, "RefSeq": { "hgvs": "NP_000267.2:p.Met158Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2741861167", "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.477G>A" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Met159Ile", "hgvsWellDefined": "NP_001305713.1:p.Met159Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331690", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Met158Ile", "hgvsWellDefined": "NP_001578.2:p.Met158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }