{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5285363",
  "communityStandardTitle": [
    "NM_005157.6(ABL1):c.1011C>T (p.Ala337=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1106009",
        "active": true,
        "id": "COSM1106009"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1598083",
        "active": true,
        "id": "COSM1598083"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1598084",
        "active": true,
        "id": "COSM1598084"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1606135[alleleid]",
        "alleleId": 1606135,
        "preferredName": "NM_005157.6(ABL1):c.1011C>T (p.Ala337=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1659764",
        "RCV": [
          "RCV002180979"
        ],
        "variationId": 1659764
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-133748350-C-T",
        "id": "9-133748350-C-T",
        "variant": "9:133748350 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133748350C>T?assembly=hg19",
        "id": "chr9:g.133748350C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130872963C>T?assembly=hg38",
        "id": "chr9:g.130872963C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151086552",
        "rs": 151086552
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133748350-C-T?dataset=gnomad_r2_1",
        "id": "9-133748350-C-T",
        "variant": "9:133748350 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130872963-C-T?dataset=gnomad_r3",
        "id": "9-130872963-C-T",
        "variant": "9:130872963 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130872963-C-T?dataset=gnomad_r4",
        "id": "9-130872963-C-T",
        "variant": "9:130872963 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130872963,
          "referenceAllele": "C",
          "start": 130872962
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130872963C>T",
        "CM000671.2:g.130872963C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133748350,
          "referenceAllele": "C",
          "start": 133748349
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133748350C>T",
        "CM000671.1:g.133748350C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132738171,
          "referenceAllele": "C",
          "start": 132738170
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132738171C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164083,
          "referenceAllele": "C",
          "start": 164082
        }
      ],
      "hgvs": [
        "NG_012034.1:g.164083C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.9:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.6:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Ala337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.1011C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.1011C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Ala337="
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Ala337="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2372,
          "referenceAllele": "C",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.7:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "C",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.5:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Ala337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.6:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829586001",
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.5:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Ala337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829712331",
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.2:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829586001",
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.6:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Ala337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.1011C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.1011C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Ala337="
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Ala337="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829712331",
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.3:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727829"
    }
  ],
  "type": "nucleotide"
}