{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381455603", "communityStandardTitle": [ "NM_024649.5(BBS1):c.174C>T (p.Asp58=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2059811[alleleid]", "alleleId": 2059811, "preferredName": "NM_024649.5(BBS1):c.174C>T (p.Asp58=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1995438", "RCV": [ "RCV002819308" ], "variationId": 1995438 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66281891C>T?assembly=hg19", "id": "chr11:g.66281891C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66514420C>T?assembly=hg38", "id": "chr11:g.66514420C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2495736130", "rs": 2495736130 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66514420, "referenceAllele": "C", "start": 66514419 } ], "hgvs": [ "NC_000011.10:g.66514420C>T", "CM000673.2:g.66514420C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66281891, "referenceAllele": "C", "start": 66281890 } ], "hgvs": [ "NC_000011.9:g.66281891C>T", "CM000673.1:g.66281891C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 66038467, "referenceAllele": "C", "start": 66038466 } ], "hgvs": [ "NC_000011.8:g.66038467C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 8773, "referenceAllele": "C", "start": 8772 } ], "hgvs": [ "NG_009093.1:g.8773C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001426" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000318312.12:c.174C>T" ], "proteinEffect": { "hgvs": "ENSP00000317469.7:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS746208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318312.12:c.174C>T" }, "RefSeq": { "hgvs": "NM_024649.5:c.174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317469.7:p.Asp58=" }, "RefSeq": { "hgvs": "NP_078925.3:p.Asp58=" } } } }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000318312.11:c.174C>T" ], "proteinEffect": { "hgvs": "ENSP00000317469.7:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS257516" }, { "coordinates": [ { "allele": "T", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000393994.4:c.174C>T" ], "proteinEffect": { "hgvs": "ENSP00000377563.2:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS275921" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "hgvs": [ "ENST00000419755.3:c.285C>T" ], "proteinEffect": { "hgvs": "ENSP00000398526.3:p.Asp95=" }, "referenceSequence": "http://reg.genome.network/refseq/RS286023" }, { "coordinates": [ { "allele": "T", "end": 192, "referenceAllele": "C", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000455748.6:c.174C>T" ], "proteinEffect": { "hgvs": "ENSP00000405764.2:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303187" }, { "coordinates": [ { "allele": "T", "end": 86, "referenceAllele": "C", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000524458.5:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000436195.1:p.Pro17Ser", "hgvsWellDefined": "ENSP00000436195.1:p.Pro17Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS350613" }, { "coordinates": [ { "allele": "T", "end": 113, "endIntronDirection": "-", "endIntronOffset": 85, "referenceAllele": "C", "start": 113, "startIntronDirection": "-", "startIntronOffset": 86 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000524705.2:c.-20-86C>T" ], "proteinEffect": { "hgvs": "ENSP00000436927.1:n.-20-86C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS350823" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "C", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000524907.5:n.164C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351001" }, { "coordinates": [ { "allele": "T", "end": 183, "endIntronDirection": "-", "endIntronOffset": 1119, "referenceAllele": "C", "start": 183, "startIntronDirection": "-", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000525809.5:c.160-1120C>T" ], "proteinEffect": { "hgvs": "ENSP00000431187.1:n.160-1120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS351776" }, { "coordinates": [ { "allele": "T", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000526035.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000434197.1:p.Pro47Ser", "hgvsWellDefined": "ENSP00000434197.1:p.Pro47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS351962" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000526760.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000432140.1:p.Pro47Ser", "hgvsWellDefined": "ENSP00000432140.1:p.Pro47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS352569" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000526815.5:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000436860.1:p.Asp28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS352617" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000527251.5:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000434360.1:p.Pro17Ser", "hgvsWellDefined": "ENSP00000434360.1:p.Pro17Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS352988" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000529766.5:n.181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355124" }, { "coordinates": [ { "allele": "T", "end": 192, "referenceAllele": "C", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000529955.5:n.192C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355283" }, { "coordinates": [ { "allele": "T", "end": 150, "referenceAllele": "C", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000532908.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000431866.1:p.Pro47Ser", "hgvsWellDefined": "ENSP00000431866.1:p.Pro47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS357756" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "C", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000533557.5:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000434619.1:p.Pro47Ser", "hgvsWellDefined": "ENSP00000434619.1:p.Pro47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS358309" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000533644.5:c.174C>T" ], "proteinEffect": { "hgvs": "ENSP00000436073.1:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS358382" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000534730.5:n.186C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359295" }, { "coordinates": [ { "allele": "T", "end": 144, "referenceAllele": "C", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "ENST00000630659.2:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000486455.1:p.Pro47Ser", "hgvsWellDefined": "ENSP00000486455.1:p.Pro47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS407398" }, { "@id": "http://reg.genome.network/allele/PA2830028624", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "NM_024649.4:c.174C>T" ], "proteinEffect": { "hgvs": "NP_078925.3:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037901" }, { "@id": "http://reg.genome.network/allele/PA2830028624", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN000966", "geneNCBI_id": 582, "geneSymbol": "BBS1", "hgvs": [ "NM_024649.5:c.174C>T" ], "proteinEffect": { "hgvs": "NP_078925.3:p.Asp58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS670731", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318312.12:c.174C>T" }, "RefSeq": { "hgvs": "NM_024649.5:c.174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317469.7:p.Asp58=" }, "RefSeq": { "hgvs": "NP_078925.3:p.Asp58=" } } } } ], "type": "nucleotide" }