{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9924279",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.547C>T (p.Leu183=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6160413"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1877411[alleleid]",
        "alleleId": 1877411,
        "preferredName": "NM_004738.5(VAPB):c.547C>T (p.Leu183=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2148963",
        "RCV": [
          "RCV003063658"
        ],
        "variationId": 2148963
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-57016113-C-T",
        "id": "20-57016113-C-T",
        "variant": "20:57016113 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57016113C>T?assembly=hg19",
        "id": "chr20:g.57016113C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58441057C>T?assembly=hg38",
        "id": "chr20:g.58441057C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374376908",
        "rs": 374376908
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57016113-C-T?dataset=gnomad_r2_1",
        "id": "20-57016113-C-T",
        "variant": "20:57016113 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58441057-C-T?dataset=gnomad_r4",
        "id": "20-58441057-C-T",
        "variant": "20:58441057 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 58441057,
          "referenceAllele": "C",
          "start": 58441056
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58441057C>T",
        "CM000682.2:g.58441057C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 57016113,
          "referenceAllele": "C",
          "start": 57016112
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57016113C>T",
        "CM000682.1:g.57016113C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 56449519,
          "referenceAllele": "C",
          "start": 56449518
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56449519C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56869,
          "referenceAllele": "C",
          "start": 56868
        }
      ],
      "hgvs": [
        "NG_008073.2:g.56869C>T",
        "LRG_656:g.56869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.547C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.547C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Leu183="
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Leu183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.741C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 3019,
          "referenceAllele": "C",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.212-3020C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:n.212-3020C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000463370.5:n.891C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000476395.1:n.2081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.*146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:n.*146C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 3019,
          "referenceAllele": "C",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.212-3020C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-3020C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829564178",
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.547C>T",
        "LRG_656t1:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.703C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 3019,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.212-3020C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-3020C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829564178",
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.547C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.547C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Leu183="
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Leu183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.593C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}