{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373286752",
  "communityStandardTitle": [
    "NM_007126.5(VCP):c.648A>G (p.Ile216Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=836087[alleleid]",
        "alleleId": 836087,
        "preferredName": "NM_007126.5(VCP):c.648A>G (p.Ile216Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836876",
        "RCV": [
          "RCV001038094",
          "RCV002463580"
        ],
        "variationId": 836876
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35064211T>C?assembly=hg19",
        "id": "chr9:g.35064211T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35064214T>C?assembly=hg38",
        "id": "chr9:g.35064214T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1828783140",
        "rs": 1828783140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35064214,
          "referenceAllele": "T",
          "start": 35064213
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35064214T>C",
        "CM000671.2:g.35064214T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35064211,
          "referenceAllele": "T",
          "start": 35064210
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35064211T>C",
        "CM000671.1:g.35064211T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35054211,
          "referenceAllele": "T",
          "start": 35054210
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35054211T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13529,
          "referenceAllele": "A",
          "start": 13528
        }
      ],
      "hgvs": [
        "NG_007887.1:g.13529A>G",
        "LRG_657:g.13529A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000694"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.11:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000351777.6:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749133",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.648A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.648A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Ile216Met"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Ile216Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "A",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000417448.2:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399456.2:p.Ile171Met",
        "hgvsWellDefined": "ENSP00000399456.2:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000448530.6:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392088.2:p.Ile171Met",
        "hgvsWellDefined": "ENSP00000392088.2:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000480327.2:n.920A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000676836.2:n.994A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000677257.1:c.642A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504354.1:p.Ile214Met",
        "hgvsWellDefined": "ENSP00000504354.1:p.Ile214Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "A",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678018.1:c.*619A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503811.1:n.*619A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678465.1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504259.1:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000504259.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000678650.1:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503426.1:p.Ile171Met",
        "hgvsWellDefined": "ENSP00000503426.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679204.2:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503131.2:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000503131.2:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679599.1:n.918A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679647.1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506216.1:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000506216.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679800.1:n.969A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "A",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679862.1:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504990.1:p.Ile171Met",
        "hgvsWellDefined": "ENSP00000504990.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000679902.1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506338.1:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000506338.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 300,
          "referenceAllele": "A",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680520.1:c.300A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "A",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680731.1:c.*136A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505497.1:n.*136A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58,
          "endIntronDirection": "+",
          "endIntronOffset": 1037,
          "referenceAllele": "A",
          "start": 58,
          "startIntronDirection": "+",
          "startIntronOffset": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680834.1:c.58+1037A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000680916.1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505769.1:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000505769.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681335.1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505230.1:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000505230.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681690.1:n.920A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "A",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000681789.1:c.201A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "A",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000358901.10:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351777.6:p.Ile216Met",
        "hgvsWellDefined": "ENSP00000351777.6:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "ENST00000493886.5:n.844A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721900",
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.3:c.648A>G",
        "LRG_657t1:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Ile216Met",
        "hgvsWellDefined": "NP_009057.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037045",
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.1:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Ile171Met",
        "hgvsWellDefined": "NP_001341856.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037534",
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.1:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Ile171Met",
        "hgvsWellDefined": "NP_001341857.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721900",
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.4:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Ile216Met",
        "hgvsWellDefined": "NP_009057.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721900",
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_007126.5:c.648A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009057.1:p.Ile216Met",
        "hgvsWellDefined": "NP_009057.1:p.Ile216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358901.11:c.648A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007126.5:c.648A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351777.6:p.Ile216Met"
          },
          "RefSeq": {
            "hgvs": "NP_009057.1:p.Ile216Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037045",
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "A",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354927.2:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341856.1:p.Ile171Met",
        "hgvsWellDefined": "NP_001341856.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828037534",
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012666",
      "geneNCBI_id": 7415,
      "geneSymbol": "VCP",
      "hgvs": [
        "NM_001354928.2:c.513A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341857.1:p.Ile171Met",
        "hgvsWellDefined": "NP_001341857.1:p.Ile171Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720586"
    }
  ],
  "type": "nucleotide"
}