{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6123441",
  "communityStandardTitle": [
    "NM_024649.5(BBS1):c.669C>T (p.Thr223=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1121769[alleleid]",
        "alleleId": 1121769,
        "preferredName": "NM_024649.5(BBS1):c.669C>T (p.Thr223=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1134346",
        "RCV": [
          "RCV001469213",
          "RCV003946219"
        ],
        "variationId": 1134346
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-66287165-C-T",
        "id": "11-66287165-C-T",
        "variant": "11:66287165 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66287165C>T?assembly=hg19",
        "id": "chr11:g.66287165C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66519694C>T?assembly=hg38",
        "id": "chr11:g.66519694C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375121390",
        "rs": 375121390
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66287165-C-T?dataset=gnomad_r2_1",
        "id": "11-66287165-C-T",
        "variant": "11:66287165 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66519694-C-T?dataset=gnomad_r3",
        "id": "11-66519694-C-T",
        "variant": "11:66519694 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66519694-C-T?dataset=gnomad_r4",
        "id": "11-66519694-C-T",
        "variant": "11:66519694 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 66519694,
          "referenceAllele": "C",
          "start": 66519693
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66519694C>T",
        "CM000673.2:g.66519694C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 66287165,
          "referenceAllele": "C",
          "start": 66287164
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66287165C>T",
        "CM000673.1:g.66287165C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 66043741,
          "referenceAllele": "C",
          "start": 66043740
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66043741C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14047,
          "referenceAllele": "C",
          "start": 14046
        }
      ],
      "hgvs": [
        "NG_009093.1:g.14047C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001426"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000318312.12:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317469.7:p.Thr223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318312.12:c.669C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024649.5:c.669C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317469.7:p.Thr223="
          },
          "RefSeq": {
            "hgvs": "NP_078925.3:p.Thr223="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000318312.11:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317469.7:p.Thr223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000393994.4:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377563.2:p.Thr223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "hgvs": [
        "ENST00000419755.3:c.780C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398526.3:p.Thr260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 1575,
          "referenceAllele": "C",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000455748.6:c.433-1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405764.2:n.433-1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000524458.5:c.*458C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436195.1:n.*458C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000524907.5:n.765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000525809.5:c.396C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431187.1:p.Thr132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000526035.5:c.*372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434197.1:n.*372C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000526760.5:c.*376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432140.1:n.*376C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000527251.5:c.*376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434360.1:n.*376C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000528543.1:n.191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529766.5:n.676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529953.5:n.321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529955.5:n.640C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12,
          "referenceAllele": "C",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000532283.1:n.12C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000532908.5:c.*329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431866.1:n.*329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000533430.5:n.447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000533557.5:c.*329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434619.1:n.*329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000533644.5:c.*127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436073.1:n.*127C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000630659.2:c.*376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486455.1:n.*376C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830029028",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "NM_024649.4:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078925.3:p.Thr223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830029028",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "NM_024649.5:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078925.3:p.Thr223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318312.12:c.669C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024649.5:c.669C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317469.7:p.Thr223="
          },
          "RefSeq": {
            "hgvs": "NP_078925.3:p.Thr223="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}