{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756239",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.529A>T (p.Arg177Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=17866",
        "active": true,
        "id": "COSM17866"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613590[alleleid]",
        "alleleId": 613590,
        "preferredName": "NM_000551.4(VHL):c.529A>T (p.Arg177Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625258",
        "RCV": [
          "RCV000767285"
        ],
        "variationId": 625258
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191536A>T?assembly=hg19",
        "id": "chr3:g.10191536A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149852A>T?assembly=hg38",
        "id": "chr3:g.10149852A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1559429717",
        "rs": 1559429717
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10149852,
          "referenceAllele": "A",
          "start": 10149851
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149852A>T",
        "CM000665.2:g.10149852A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10191536,
          "referenceAllele": "A",
          "start": 10191535
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191536A>T",
        "CM000665.1:g.10191536A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10166536,
          "referenceAllele": "A",
          "start": 10166535
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166536A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13218,
          "referenceAllele": "A",
          "start": 13217
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13218A>T",
        "LRG_322:g.13218A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "A",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*206A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*206A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "A",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.665A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.640A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Arg214Ter",
        "hgvsWellDefined": "ENSP00000512444.1:p.Arg214_Asp250delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.529A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Arg177Ter",
        "hgvsWellDefined": "ENSP00000256474.3:p.Arg177_Asp213delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.529A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.529A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Arg177Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Arg177Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "A",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.529A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Arg177Ter",
        "hgvsWellDefined": "ENSP00000256474.2:p.Arg177_Asp213delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "A",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.406A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Arg136Ter",
        "hgvsWellDefined": "ENSP00000344757.2:p.Arg136_Asp172delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "A",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.665A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197568",
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.529A>T",
        "LRG_322t1:c.529A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg177Ter",
        "hgvsWellDefined": "NP_000542.1:p.Arg177_Asp213delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430832",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "A",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.406A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_937799.1:p.Arg136_Asp172delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*83A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*83A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197568",
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.529A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg177Ter",
        "hgvsWellDefined": "NP_000542.1:p.Arg177_Asp213delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.529A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.529A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Arg177Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Arg177Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*83A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*83A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430832",
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.406A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_937799.1:p.Arg136_Asp172delinsLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}