{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA236153",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.656G>T (p.Gly219Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188966[alleleid]",
        "alleleId": 188966,
        "preferredName": "NM_004738.5(VAPB):c.656G>T (p.Gly219Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191163",
        "RCV": [
          "RCV000171347",
          "RCV000514140",
          "RCV002254543"
        ],
        "variationId": 191163
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57019215G>T?assembly=hg19",
        "id": "chr20:g.57019215G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58444159G>T?assembly=hg38",
        "id": "chr20:g.58444159G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205553",
        "rs": 786205553
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57019215-G-T?dataset=gnomad_r2_1",
        "id": "20-57019215-G-T",
        "variant": "20:57019215 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58444159-G-T?dataset=gnomad_r4",
        "id": "20-58444159-G-T",
        "variant": "20:58444159 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 58444159,
          "referenceAllele": "G",
          "start": 58444158
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58444159G>T",
        "CM000682.2:g.58444159G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 57019215,
          "referenceAllele": "G",
          "start": 57019214
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57019215G>T",
        "CM000682.1:g.57019215G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 56452621,
          "referenceAllele": "G",
          "start": 56452620
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56452621G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59971,
          "referenceAllele": "G",
          "start": 59970
        }
      ],
      "hgvs": [
        "NG_008073.2:g.59971G>T",
        "LRG_656:g.59971G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.656G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Gly219Val",
        "hgvsWellDefined": "ENSP00000417175.1:p.Gly219Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.656G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.656G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Gly219Val"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Gly219Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.850G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.294G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:p.Arg98Ser",
        "hgvsWellDefined": "ENSP00000379147.3:p.Arg98Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000463370.5:n.1000G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.656G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Gly219Val",
        "hgvsWellDefined": "ENSP00000417175.1:p.Gly219Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000476395.1:n.2190G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.*255G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:n.*255G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826210326",
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Arg98Ser",
        "hgvsWellDefined": "NP_001182606.1:p.Arg98Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236155",
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.656G>T",
        "LRG_656t1:c.656G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Gly219Val",
        "hgvsWellDefined": "NP_004729.1:p.Gly219Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.812G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826210326",
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Arg98Ser",
        "hgvsWellDefined": "NP_001182606.1:p.Arg98Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236155",
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.656G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Gly219Val",
        "hgvsWellDefined": "NP_004729.1:p.Gly219Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.656G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.656G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Gly219Val"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Gly219Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.702G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}