{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341351568",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3225900[alleleid]",
        "alleleId": 3225900,
        "preferredName": "NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3065883",
        "RCV": [
          "RCV003990960"
        ],
        "variationId": 3065883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100661914G>C?assembly=hg19",
        "id": "chr1:g.100661914G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100196358G>C?assembly=hg38",
        "id": "chr1:g.100196358G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2524063471",
        "rs": 2524063471
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100196358,
          "referenceAllele": "G",
          "start": 100196357
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100196358G>C",
        "CM000663.2:g.100196358G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100661914,
          "referenceAllele": "G",
          "start": 100661913
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100661914G>C",
        "CM000663.1:g.100661914G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100434502,
          "referenceAllele": "G",
          "start": 100434501
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100434502G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58496,
          "referenceAllele": "C",
          "start": 58495
        }
      ],
      "hgvs": [
        "NG_011852.2:g.58496C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.1472C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Ser491Ter",
        "hgvsWellDefined": "ENSP00000505544.1:p.Ser491_Lys524delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Ser268Ter",
        "hgvsWellDefined": "ENSP00000505780.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Ser449Ter",
        "hgvsWellDefined": "ENSP00000359151.3:p.Ser449_Lys482delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ser449Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ser449Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ser449Ter",
        "hgvsWellDefined": "NP_001909.3:p.Ser449_Lys482delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Ser268Ter",
        "hgvsWellDefined": "XP_005270602.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Ser268Ter",
        "hgvsWellDefined": "XP_005270603.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Ser268Ter",
        "hgvsWellDefined": "XP_005270602.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Ser268Ter",
        "hgvsWellDefined": "XP_016855957.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Ser268Ter",
        "hgvsWellDefined": "XP_016855958.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ser449Ter",
        "hgvsWellDefined": "NP_001909.3:p.Ser449_Lys482delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829359840",
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Ser449Ter",
        "hgvsWellDefined": "NP_001909.4:p.Ser449_Lys482delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ser449Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ser449Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829289995",
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Ser268Ter",
        "hgvsWellDefined": "NP_001386898.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829290096",
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Ser268Ter",
        "hgvsWellDefined": "NP_001386901.1:p.Ser268_Lys301delinsAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.1178C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.1519C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.1143C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.1445C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}