{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341337803",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.820C>A (p.Pro274Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6271307",
        "active": true,
        "id": "COSM6271307"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6271308",
        "active": true,
        "id": "COSM6271308"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1334585[alleleid]",
        "alleleId": 1334585,
        "preferredName": "NM_001918.5(DBT):c.820C>A (p.Pro274Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1342939",
        "RCV": [
          "RCV001843390"
        ],
        "variationId": 1342939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100680492G>T?assembly=hg19",
        "id": "chr1:g.100680492G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100214936G>T?assembly=hg38",
        "id": "chr1:g.100214936G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1310427311",
        "rs": 1310427311
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100214936,
          "referenceAllele": "G",
          "start": 100214935
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100214936G>T",
        "CM000663.2:g.100214936G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100680492,
          "referenceAllele": "G",
          "start": 100680491
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100680492G>T",
        "CM000663.1:g.100680492G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100453080,
          "referenceAllele": "G",
          "start": 100453079
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100453080G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39918,
          "referenceAllele": "C",
          "start": 39917
        }
      ],
      "hgvs": [
        "NG_011852.2:g.39918C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Pro274Thr",
        "hgvsWellDefined": "ENSP00000505544.1:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Pro93Thr",
        "hgvsWellDefined": "ENSP00000505780.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370131.3:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359150.3:p.Pro274Thr",
        "hgvsWellDefined": "ENSP00000359150.3:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Pro274Thr",
        "hgvsWellDefined": "ENSP00000359151.3:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.820C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.820C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Pro274Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Pro274Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Pro274Thr",
        "hgvsWellDefined": "NP_001909.3:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Pro93Thr",
        "hgvsWellDefined": "XP_005270602.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Pro93Thr",
        "hgvsWellDefined": "XP_005270603.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.1:n.840C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Pro93Thr",
        "hgvsWellDefined": "XP_005270602.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Pro93Thr",
        "hgvsWellDefined": "XP_016855957.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Pro93Thr",
        "hgvsWellDefined": "XP_016855958.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.837C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Pro274Thr",
        "hgvsWellDefined": "NP_001909.3:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081247",
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.820C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Pro274Thr",
        "hgvsWellDefined": "NP_001909.4:p.Pro274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.820C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.820C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Pro274Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Pro274Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Pro93Thr",
        "hgvsWellDefined": "NP_001386898.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.277C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Pro93Thr",
        "hgvsWellDefined": "NP_001386901.1:p.Pro93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.652C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.834C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.617C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.834C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}