{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117096",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19845[alleleid]",
        "alleleId": 19845,
        "preferredName": "NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4806",
        "RCV": [
          "RCV000005073",
          "RCV000059635",
          "RCV002254542",
          "RCV002254541"
        ],
        "variationId": 4806
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.56993374C>T?assembly=hg19",
        "id": "chr20:g.56993374C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58418318C>T?assembly=hg38",
        "id": "chr20:g.58418318C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315431",
        "rs": 74315431
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-56993374-C-T?dataset=gnomad_r2_1",
        "id": "20-56993374-C-T",
        "variant": "20:56993374 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58418318-C-T?dataset=gnomad_r4",
        "id": "20-58418318-C-T",
        "variant": "20:58418318 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 58418318,
          "referenceAllele": "C",
          "start": 58418317
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58418318C>T",
        "CM000682.2:g.58418318C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 56993374,
          "referenceAllele": "C",
          "start": 56993373
        }
      ],
      "hgvs": [
        "NC_000020.10:g.56993374C>T",
        "CM000682.1:g.56993374C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 56426780,
          "referenceAllele": "C",
          "start": 56426779
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56426780C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34130,
          "referenceAllele": "C",
          "start": 34129
        }
      ],
      "hgvs": [
        "NG_008073.2:g.34130C>T",
        "LRG_656:g.34130C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Pro56Ser",
        "hgvsWellDefined": "ENSP00000417175.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.166C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.166C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Pro56Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Pro56Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.464C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "C",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:p.Pro56Ser",
        "hgvsWellDefined": "ENSP00000379147.3:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Pro56Ser",
        "hgvsWellDefined": "ENSP00000417175.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:p.Pro56Ser",
        "hgvsWellDefined": "ENSP00000430426.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826210301",
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Pro56Ser",
        "hgvsWellDefined": "NP_001182606.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097462",
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.166C>T",
        "LRG_656t1:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Pro56Ser",
        "hgvsWellDefined": "NP_004729.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.507C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "XR_001754433.2:n.415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826210301",
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Pro56Ser",
        "hgvsWellDefined": "NP_001182606.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097462",
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Pro56Ser",
        "hgvsWellDefined": "NP_004729.1:p.Pro56Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.166C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.166C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Pro56Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Pro56Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.397C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}