{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273293",
  "communityStandardTitle": [
    "NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175300[alleleid]",
        "alleleId": 175300,
        "preferredName": "NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166556",
        "RCV": [
          "RCV000152653"
        ],
        "variationId": 166556
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75874107C>T?assembly=hg19",
        "id": "chr10:g.75874107C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.74114349C>T?assembly=hg38",
        "id": "chr10:g.74114349C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727503741",
        "rs": 727503741
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 74114349,
          "referenceAllele": "C",
          "start": 74114348
        }
      ],
      "hgvs": [
        "NC_000010.11:g.74114349C>T",
        "CM000672.2:g.74114349C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75874107,
          "referenceAllele": "C",
          "start": 75874106
        }
      ],
      "hgvs": [
        "NC_000010.10:g.75874107C>T",
        "CM000672.1:g.75874107C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75544113,
          "referenceAllele": "C",
          "start": 75544112
        }
      ],
      "hgvs": [
        "NC_000010.9:g.75544113C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121236,
          "referenceAllele": "C",
          "start": 121235
        }
      ],
      "hgvs": [
        "NG_008868.1:g.121236C>T",
        "LRG_383:g.121236C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001263"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3207,
          "referenceAllele": "C",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.10:c.3115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.5:p.Gln1039Ter",
        "hgvsWellDefined": "ENSP00000211998.5:p.Gln1039_Gln1134delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.3115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.3115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Gln1039Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Gln1039Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3209,
          "referenceAllele": "C",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.8:c.3115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.4:p.Gln1039Ter",
        "hgvsWellDefined": "ENSP00000211998.4:p.Gln1039_Gln1134delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000372755.7:c.2911C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361841.3:p.Gln971Ter",
        "hgvsWellDefined": "ENSP00000361841.3:p.Gln971_Gln1066delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000436396.1:c.2131C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415489.1:p.Gln711Ter",
        "hgvsWellDefined": "ENSP00000415489.1:p.Gln711_Gln806delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5714,
          "referenceAllele": "C",
          "start": 5713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000623461.3:n.5714C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3138,
          "referenceAllele": "C",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000624354.3:c.*2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485551.1:n.*2870C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987592",
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.3:c.2911C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Gln971Ter",
        "hgvsWellDefined": "NP_003364.1:p.Gln971_Gln1066delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273295",
      "coordinates": [
        {
          "allele": "T",
          "end": 3209,
          "referenceAllele": "C",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.2:c.3115C>T",
        "LRG_383t1:c.3115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Gln1039Ter",
        "hgvsWellDefined": "NP_054706.1:p.Gln1039_Gln1134delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3248,
          "referenceAllele": "C",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270142.1:c.3118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270199.1:p.Gln1040Ter",
        "hgvsWellDefined": "XP_005270199.1:p.Gln1040_Gln1135delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3044,
          "referenceAllele": "C",
          "start": 3043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270143.1:c.2914C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270200.1:p.Gln972Ter",
        "hgvsWellDefined": "XP_005270200.1:p.Gln972_Gln1067delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987592",
      "coordinates": [
        {
          "allele": "T",
          "end": 3003,
          "referenceAllele": "C",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.4:c.2911C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Gln971Ter",
        "hgvsWellDefined": "NP_003364.1:p.Gln971_Gln1066delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273295",
      "coordinates": [
        {
          "allele": "T",
          "end": 3207,
          "referenceAllele": "C",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.3:c.3115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Gln1039Ter",
        "hgvsWellDefined": "NP_054706.1:p.Gln1039_Gln1134delinsCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.3115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.3115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Gln1039Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Gln1039Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}