{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA136799",
  "communityStandardTitle": [
    "NM_014000.3(VCL):c.590C>T (p.Thr197Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54783[alleleid]",
        "alleleId": 54783,
        "preferredName": "NM_014000.3(VCL):c.590C>T (p.Thr197Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45617",
        "RCV": [
          "RCV000038835",
          "RCV000154123",
          "RCV000252580",
          "RCV001084501",
          "RCV000852615",
          "RCV003952439"
        ],
        "variationId": 45617
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-75832578-C-T",
        "id": "10-75832578-C-T",
        "variant": "10:75832578 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75832578C>T?assembly=hg19",
        "id": "chr10:g.75832578C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.74072820C>T?assembly=hg38",
        "id": "chr10:g.74072820C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189242810",
        "rs": 189242810
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-75832578-C-T?dataset=gnomad_r2_1",
        "id": "10-75832578-C-T",
        "variant": "10:75832578 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74072820-C-T?dataset=gnomad_r3",
        "id": "10-74072820-C-T",
        "variant": "10:74072820 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74072820-C-T?dataset=gnomad_r4",
        "id": "10-74072820-C-T",
        "variant": "10:74072820 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 74072820,
          "referenceAllele": "C",
          "start": 74072819
        }
      ],
      "hgvs": [
        "NC_000010.11:g.74072820C>T",
        "CM000672.2:g.74072820C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75832578,
          "referenceAllele": "C",
          "start": 75832577
        }
      ],
      "hgvs": [
        "NC_000010.10:g.75832578C>T",
        "CM000672.1:g.75832578C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75502584,
          "referenceAllele": "C",
          "start": 75502583
        }
      ],
      "hgvs": [
        "NC_000010.9:g.75502584C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79707,
          "referenceAllele": "C",
          "start": 79706
        }
      ],
      "hgvs": [
        "NG_008868.1:g.79707C>T",
        "LRG_383:g.79707C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001263"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.10:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.5:p.Thr197Ile",
        "hgvsWellDefined": "ENSP00000211998.5:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Thr197Ile"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Thr197Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.8:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.4:p.Thr197Ile",
        "hgvsWellDefined": "ENSP00000211998.4:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000372755.7:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361841.3:p.Thr197Ile",
        "hgvsWellDefined": "ENSP00000361841.3:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 28233,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 28234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000478896.2:n.332-28234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000623461.3:n.548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000624354.3:c.*345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485551.1:n.*345C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829449004",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.3:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Thr197Ile",
        "hgvsWellDefined": "NP_003364.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA136801",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.2:c.590C>T",
        "LRG_383t1:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Thr197Ile",
        "hgvsWellDefined": "NP_054706.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270142.1:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270199.1:p.Thr197Ile",
        "hgvsWellDefined": "XP_005270199.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270143.1:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270200.1:p.Thr197Ile",
        "hgvsWellDefined": "XP_005270200.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829449004",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.4:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Thr197Ile",
        "hgvsWellDefined": "NP_003364.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA136801",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.3:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Thr197Ile",
        "hgvsWellDefined": "NP_054706.1:p.Thr197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Thr197Ile"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Thr197Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}