{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9924281",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442304[alleleid]",
        "alleleId": 442304,
        "preferredName": "NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448852",
        "RCV": [
          "RCV000518325",
          "RCV002254550",
          "RCV002350144"
        ],
        "variationId": 448852
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-57016117-G-A",
        "id": "20-57016117-G-A",
        "variant": "20:57016117 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57016117G>A?assembly=hg19",
        "id": "chr20:g.57016117G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58441061G>A?assembly=hg38",
        "id": "chr20:g.58441061G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145483046",
        "rs": 145483046
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57016117-G-A?dataset=gnomad_r2_1",
        "id": "20-57016117-G-A",
        "variant": "20:57016117 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58441061-G-A?dataset=gnomad_r3",
        "id": "20-58441061-G-A",
        "variant": "20:58441061 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58441061-G-A?dataset=gnomad_r4",
        "id": "20-58441061-G-A",
        "variant": "20:58441061 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 58441061,
          "referenceAllele": "G",
          "start": 58441060
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58441061G>A",
        "CM000682.2:g.58441061G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 57016117,
          "referenceAllele": "G",
          "start": 57016116
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57016117G>A",
        "CM000682.1:g.57016117G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 56449523,
          "referenceAllele": "G",
          "start": 56449522
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56449523G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56873,
          "referenceAllele": "G",
          "start": 56872
        }
      ],
      "hgvs": [
        "NG_008073.2:g.56873G>A",
        "LRG_656:g.56873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Arg184Gln",
        "hgvsWellDefined": "ENSP00000417175.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.551G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.551G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Arg184Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Arg184Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 3015,
          "referenceAllele": "G",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.212-3016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:n.212-3016G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000463370.5:n.895G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Arg184Gln",
        "hgvsWellDefined": "ENSP00000417175.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "referenceAllele": "G",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000476395.1:n.2085G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.*150G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:n.*150G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 3015,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.212-3016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-3016G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659499",
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.551G>A",
        "LRG_656t1:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Arg184Gln",
        "hgvsWellDefined": "NP_004729.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.707G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 3015,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.212-3016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-3016G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659499",
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Arg184Gln",
        "hgvsWellDefined": "NP_004729.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.551G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.551G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Arg184Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Arg184Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.597G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}