{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373286351",
  "communityStandardTitle": [
    "NM_007126.5(VCP):c.794T>C (p.Phe265Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901971[alleleid]",
        "alleleId": 901971,
        "preferredName": "NM_007126.5(VCP):c.794T>C (p.Phe265Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/913794",
        "RCV": [
          "RCV001167604",
          "RCV001167605"
        ],
        "variationId": 913794
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35062992A>G?assembly=hg19",
        "id": "chr9:g.35062992A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35062995A>G?assembly=hg38",
        "id": "chr9:g.35062995A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1828756507",
        "rs": 1828756507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35062995,
          "referenceAllele": "A",
          "start": 35062994
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35062995A>G",
        "CM000671.2:g.35062995A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35062992,
          "referenceAllele": "A",
          "start": 35062991
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35062992A>G",
        "CM000671.1:g.35062992A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35052992,
          "referenceAllele": "A",
          "start": 35052991
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35052992A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14748,
          "referenceAllele": "T",
          "start": 14747
        }
      ],
      "hgvs": [
        "NG_007887.1:g.14748T>C",
        "LRG_657:g.14748T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000694"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.11:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000351777.6:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749133",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.794T>C"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.794T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Phe265Ser"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Phe265Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000417448.2:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399456.2:p.Phe220Ser",
        "hgvsWellDefined": "ENSP00000399456.2:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1169,
          "referenceAllele": "T",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000448530.6:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392088.2:p.Phe220Ser",
        "hgvsWellDefined": "ENSP00000392088.2:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000480327.2:n.1066T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000676836.2:n.1140T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1036,
          "referenceAllele": "T",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000677257.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504354.1:p.Phe263Ser",
        "hgvsWellDefined": "ENSP00000504354.1:p.Phe263Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "T",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678018.1:c.*765T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503811.1:n.*765T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678465.1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504259.1:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000504259.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 994,
          "referenceAllele": "T",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678650.1:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503426.1:p.Phe220Ser",
        "hgvsWellDefined": "ENSP00000503426.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679204.2:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503131.2:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000503131.2:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679599.1:n.1064T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "T",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679647.1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506216.1:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000506216.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "T",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679800.1:n.1115T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679862.1:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504990.1:p.Phe220Ser",
        "hgvsWellDefined": "ENSP00000504990.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679902.1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506338.1:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000506338.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "T",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680520.1:c.446T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144,
          "referenceAllele": "T",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680834.1:c.144T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680916.1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505769.1:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000505769.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681335.1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505230.1:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000505230.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681690.1:n.1066T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "T",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681789.1:c.347T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "T",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.10:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Phe265Ser",
        "hgvsWellDefined": "ENSP00000351777.6:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "T",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000493886.5:n.990T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721948",
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "T",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.3:c.794T>C",
        "LRG_657t1:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Phe265Ser",
        "hgvsWellDefined": "NP_009057.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037077",
      "coordinates": [
        {
          "allele": "C",
          "end": 1169,
          "referenceAllele": "T",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.1:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Phe220Ser",
        "hgvsWellDefined": "NP_001341856.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037582",
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "T",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.1:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Phe220Ser",
        "hgvsWellDefined": "NP_001341857.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721948",
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "T",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.4:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Phe265Ser",
        "hgvsWellDefined": "NP_009057.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721948",
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.5:c.794T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Phe265Ser",
        "hgvsWellDefined": "NP_009057.1:p.Phe265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.794T>C"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.794T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Phe265Ser"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Phe265Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037077",
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.2:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Phe220Ser",
        "hgvsWellDefined": "NP_001341856.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037582",
      "coordinates": [
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "T",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.2:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Phe220Ser",
        "hgvsWellDefined": "NP_001341857.1:p.Phe220Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720586"
    }
  ],
  "type": "nucleotide"
}