{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274743571",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.2528C>T (p.Thr843Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1394851[alleleid]",
        "alleleId": 1394851,
        "preferredName": "NM_000057.4(BLM):c.2528C>T (p.Thr843Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1377236",
        "RCV": [
          "RCV001889856",
          "RCV003303271"
        ],
        "variationId": 1377236
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91312789C>T?assembly=hg19",
        "id": "chr15:g.91312789C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90769559C>T?assembly=hg38",
        "id": "chr15:g.90769559C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853152",
        "rs": 137853152
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90769559,
          "referenceAllele": "C",
          "start": 90769558
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90769559C>T",
        "CM000677.2:g.90769559C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91312789,
          "referenceAllele": "C",
          "start": 91312788
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91312789C>T",
        "CM000677.1:g.91312789C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89113793,
          "referenceAllele": "C",
          "start": 89113792
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89113793C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57188,
          "referenceAllele": "C",
          "start": 57187
        }
      ],
      "hgvs": [
        "NG_007272.1:g.57188C>T",
        "LRG_20:g.57188C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.2528C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.2528C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr843Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr843Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000497646.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "referenceAllele": "C",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000506117.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000506682.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "C",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*1452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*1452C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Thr843Ile",
        "hgvsWellDefined": "ENSP00000454158.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093502",
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "C",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_000048.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826737841",
      "coordinates": [
        {
          "allele": "T",
          "end": 2756,
          "referenceAllele": "C",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573191808",
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "C",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826741231",
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "referenceAllele": "C",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.1403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Thr468Ile",
        "hgvsWellDefined": "NP_001274177.1:p.Thr468Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Thr189Ile",
        "hgvsWellDefined": "XP_006720695.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.1214C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Thr405Ile",
        "hgvsWellDefined": "XP_011520183.1:p.Thr405Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Thr843Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.1214C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Thr405Ile",
        "hgvsWellDefined": "XP_011520183.1:p.Thr405Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2575,
          "referenceAllele": "C",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Thr843Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093502",
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_000048.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.2528C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.2528C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr843Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr843Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826737841",
      "coordinates": [
        {
          "allele": "T",
          "end": 2737,
          "referenceAllele": "C",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573191808",
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.2528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr843Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Thr843Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826741231",
      "coordinates": [
        {
          "allele": "T",
          "end": 2793,
          "referenceAllele": "C",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.1403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Thr468Ile",
        "hgvsWellDefined": "NP_001274177.1:p.Thr468Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}