{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409886666",
  "communityStandardTitle": [
    "NM_001757.4(CBR1):c.391C>A (p.Pro131Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.37443349C>A?assembly=hg19",
        "id": "chr21:g.37443349C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36071051C>A?assembly=hg38",
        "id": "chr21:g.36071051C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41557318",
        "rs": 41557318
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36071051-C-A?dataset=gnomad_r4",
        "id": "21-36071051-C-A",
        "variant": "21:36071051 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36071051,
          "referenceAllele": "C",
          "start": 36071050
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36071051C>A",
        "CM000683.2:g.36071051C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 37443349,
          "referenceAllele": "C",
          "start": 37443348
        }
      ],
      "hgvs": [
        "NC_000021.8:g.37443349C>A",
        "CM000683.1:g.37443349C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36365219,
          "referenceAllele": "C",
          "start": 36365218
        }
      ],
      "hgvs": [
        "NC_000021.7:g.36365219C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.11:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:p.Pro131Thr",
        "hgvsWellDefined": "ENSP00000290349.6:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.391C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.391C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:p.Pro131Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:p.Pro131Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.10:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:p.Pro131Thr",
        "hgvsWellDefined": "ENSP00000290349.6:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000399191.3:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382143.3:p.Pro131Thr",
        "hgvsWellDefined": "ENSP00000382143.3:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 8254,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 8253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001258",
      "geneNCBI_id": 54093,
      "geneSymbol": "SETD4",
      "hgvs": [
        "ENST00000399201.5:c.-203+8254G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382152.1:n.-203+8254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000439427.2:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395132.2:p.Pro131Thr",
        "hgvsWellDefined": "ENSP00000395132.2:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000466328.2:n.566C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000530908.5:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434613.1:p.Pro131Thr",
        "hgvsWellDefined": "ENSP00000434613.1:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.1:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:p.Pro131Thr",
        "hgvsWellDefined": "NP_001273718.1:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088322875",
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.3:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:p.Pro131Thr",
        "hgvsWellDefined": "NP_001748.1:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 565,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055777",
      "geneNCBI_id": 100133286,
      "geneSymbol": "CBR1-AS1",
      "hgvs": [
        "NR_040084.1:n.378-566G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088322875",
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.4:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:p.Pro131Thr",
        "hgvsWellDefined": "NP_001748.1:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.391C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.391C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:p.Pro131Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:p.Pro131Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.2:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:p.Pro131Thr",
        "hgvsWellDefined": "NP_001273718.1:p.Pro131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682328"
    }
  ],
  "type": "nucleotide"
}