{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373291969",
  "communityStandardTitle": [
    "NM_007126.5(VCP):c.383G>C (p.Gly128Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425845[alleleid]",
        "alleleId": 425845,
        "preferredName": "NM_007126.5(VCP):c.383G>C (p.Gly128Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432305",
        "RCV": [
          "RCV000498690",
          "RCV003766796"
        ],
        "variationId": 432305
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35066734C>G?assembly=hg19",
        "id": "chr9:g.35066734C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35066737C>G?assembly=hg38",
        "id": "chr9:g.35066737C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554668979",
        "rs": 1554668979
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35066737,
          "referenceAllele": "C",
          "start": 35066736
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35066737C>G",
        "CM000671.2:g.35066737C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35066734,
          "referenceAllele": "C",
          "start": 35066733
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35066734C>G",
        "CM000671.1:g.35066734C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35056734,
          "referenceAllele": "C",
          "start": 35056733
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35056734C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11006,
          "referenceAllele": "G",
          "start": 11005
        }
      ],
      "hgvs": [
        "NG_007887.1:g.11006G>C",
        "LRG_657:g.11006G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000694"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.11:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000351777.6:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749133",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.383G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.383G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Gly128Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Gly128Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000417448.2:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399456.2:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000399456.2:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000448530.6:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392088.2:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000392088.2:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000480327.2:n.655G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000676836.2:n.729G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000677257.1:c.377G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504354.1:p.Gly126Ala",
        "hgvsWellDefined": "ENSP00000504354.1:p.Gly126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678018.1:c.*354G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503811.1:n.*354G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678465.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504259.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000504259.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678650.1:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503426.1:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000503426.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679204.2:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503131.2:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000503131.2:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679599.1:n.653G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679647.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506216.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000506216.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679800.1:n.704G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679862.1:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504990.1:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000504990.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679902.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506338.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000506338.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680079.1:c.*304G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506523.1:n.*304G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 1154,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680731.1:c.167+1154G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505497.1:n.167+1154G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680916.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505769.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000505769.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681335.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505230.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000505230.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681562.1:c.81G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681690.1:n.655G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "hgvs": [
        "ENST00000681845.1:c.549G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "G",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.10:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000351777.6:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000417448.1:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399456.1:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000399456.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000448530.5:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392088.1:p.Gly83Ala",
        "hgvsWellDefined": "ENSP00000392088.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000493886.5:n.579G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508618",
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.3:c.383G>C",
        "LRG_657t1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Gly128Ala",
        "hgvsWellDefined": "NP_009057.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036939",
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.1:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Gly83Ala",
        "hgvsWellDefined": "NP_001341856.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043012",
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.1:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Gly83Ala",
        "hgvsWellDefined": "NP_001341857.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508618",
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.4:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Gly128Ala",
        "hgvsWellDefined": "NP_009057.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508618",
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.5:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Gly128Ala",
        "hgvsWellDefined": "NP_009057.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.383G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.383G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Gly128Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Gly128Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036939",
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.2:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Gly83Ala",
        "hgvsWellDefined": "NP_001341856.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043012",
      "coordinates": [
        {
          "allele": "C",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.2:c.248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Gly83Ala",
        "hgvsWellDefined": "NP_001341857.1:p.Gly83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720586"
    }
  ],
  "type": "nucleotide"
}