{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA245351", "communityStandardTitle": [ "NM_015311.3(OBSL1):c.1599G>A (p.Thr533=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194466[alleleid]", "alleleId": 194466, "preferredName": "NM_015311.3(OBSL1):c.1599G>A (p.Thr533=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197305", "RCV": [ "RCV000178302", "RCV001143129" ], "variationId": 197305 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-220432233-C-T", "id": "2-220432233-C-T", "variant": "2:220432233 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.220432233C>T?assembly=hg19", "id": "chr2:g.220432233C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.219567511C>T?assembly=hg38", "id": "chr2:g.219567511C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149009269", "rs": 149009269 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-220432233-C-T?dataset=gnomad_r2_1", "id": "2-220432233-C-T", "variant": "2:220432233 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219567511-C-T?dataset=gnomad_r3", "id": "2-219567511-C-T", "variant": "2:219567511 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219567511-C-T?dataset=gnomad_r4", "id": "2-219567511-C-T", "variant": "2:219567511 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 219567511, "referenceAllele": "C", "start": 219567510 } ], "hgvs": [ "NC_000002.12:g.219567511C>T", "CM000664.2:g.219567511C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 220432233, "referenceAllele": "C", "start": 220432232 } ], "hgvs": [ "NC_000002.11:g.220432233C>T", "CM000664.1:g.220432233C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 220140477, "referenceAllele": "C", "start": 220140476 } ], "hgvs": [ "NC_000002.10:g.220140477C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 9036, "referenceAllele": "G", "start": 9035 } ], "hgvs": [ "NG_016977.1:g.9036G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003346" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.6:c.1599G>A" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.1599G>A" }, "RefSeq": { "hgvs": "NM_015311.3:c.1599G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Thr533=" }, "RefSeq": { "hgvs": "NP_056126.1:p.Thr533=" } } } }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000289656.3:c.360G>A" ], "proteinEffect": { "hgvs": "ENSP00000289656.3:p.Thr120=" }, "referenceSequence": "http://reg.genome.network/refseq/RS253587" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "G", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000373873.8:c.1599G>A" ], "proteinEffect": { "hgvs": "ENSP00000362980.4:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS269940" }, { "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000373876.5:c.1599G>A" ], "proteinEffect": { "hgvs": "ENSP00000362983.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS269942" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "G", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.5:c.1599G>A" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS280097" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000465149.1:n.1106G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308815" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "G", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000603926.5:c.1599G>A" ], "proteinEffect": { "hgvs": "ENSP00000474519.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS398829" }, { "@id": "http://reg.genome.network/allele/PA2826084380", "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173408.1:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_001166879.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015579" }, { "@id": "http://reg.genome.network/allele/PA2826086666", "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173431.1:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_001166902.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015581" }, { "@id": "http://reg.genome.network/allele/PA2829806093", "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.2:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS033914" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_005246424.3:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_005246481.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057621" }, { "coordinates": [ { "allele": "A", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_005246427.3:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_005246484.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057622" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510854.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509156.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078115" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510855.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509157.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078116" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510856.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509158.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078117" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078118" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510858.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509160.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078119" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510859.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509161.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078120" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510860.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509162.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078121" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510861.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509163.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078122" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510862.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509164.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078123" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509165.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078124" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510864.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509166.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078125" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509167.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078126" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "G", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510866.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509168.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS078127" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541912" }, { "coordinates": [ { "allele": "A", "end": 1933, "referenceAllele": "G", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.3:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509165.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541913" }, { "coordinates": [ { "allele": "A", "end": 1932, "referenceAllele": "G", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510864.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509166.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541914" }, { "coordinates": [ { "allele": "A", "end": 1932, "referenceAllele": "G", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509167.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541915" }, { "coordinates": [ { "allele": "A", "end": 1931, "referenceAllele": "G", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510866.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_011509168.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541916" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003696.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_016859185.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559367" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003697.2:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_016859186.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559368" }, { "coordinates": [ { "allele": "A", "end": 1938, "referenceAllele": "G", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003698.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_016859187.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559369" }, { "coordinates": [ { "allele": "A", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003699.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_016859188.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559370" }, { "coordinates": [ { "allele": "A", "end": 1937, "referenceAllele": "G", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003700.1:c.1599G>A" ], "proteinEffect": { "hgvs": "XP_016859189.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559371" }, { "@id": "http://reg.genome.network/allele/PA2829806093", "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.3:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS668708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.1599G>A" }, "RefSeq": { "hgvs": "NM_015311.3:c.1599G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Thr533=" }, "RefSeq": { "hgvs": "NP_056126.1:p.Thr533=" } } } }, { "@id": "http://reg.genome.network/allele/PA2826084380", "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173408.2:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_001166879.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678804" }, { "@id": "http://reg.genome.network/allele/PA2826086666", "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173431.2:c.1599G>A" ], "proteinEffect": { "hgvs": "NP_001166902.1:p.Thr533=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678806" } ], "type": "nucleotide" }