{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5275150",
  "communityStandardTitle": [
    "NM_020438.5(DOLPP1):c.569T>G (p.Leu190Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4588505",
        "active": true,
        "id": "COSM4588505"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2446794[alleleid]",
        "alleleId": 2446794,
        "preferredName": "NM_020438.5(DOLPP1):c.569T>G (p.Leu190Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2462742",
        "RCV": [
          "RCV004257654"
        ],
        "variationId": 2462742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-131848525-T-G",
        "id": "9-131848525-T-G",
        "variant": "9:131848525 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131848525T>G?assembly=hg19",
        "id": "chr9:g.131848525T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.129086246T>G?assembly=hg38",
        "id": "chr9:g.129086246T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757477955",
        "rs": 757477955
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131848525-T-G?dataset=gnomad_r2_1",
        "id": "9-131848525-T-G",
        "variant": "9:131848525 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-129086246-T-G?dataset=gnomad_r3",
        "id": "9-129086246-T-G",
        "variant": "9:129086246 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-129086246-T-G?dataset=gnomad_r4",
        "id": "9-129086246-T-G",
        "variant": "9:129086246 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 129086246,
          "referenceAllele": "T",
          "start": 129086245
        }
      ],
      "hgvs": [
        "NC_000009.12:g.129086246T>G",
        "CM000671.2:g.129086246T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 131848525,
          "referenceAllele": "T",
          "start": 131848524
        }
      ],
      "hgvs": [
        "NC_000009.11:g.131848525T>G",
        "CM000671.1:g.131848525T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130888346,
          "referenceAllele": "T",
          "start": 130888345
        }
      ],
      "hgvs": [
        "NC_000009.10:g.130888346T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "ENST00000372546.9:c.569T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361625.4:p.Leu190Arg",
        "hgvsWellDefined": "ENSP00000361625.4:p.Leu190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372546.9:c.569T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020438.5:c.569T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361625.4:p.Leu190Arg"
          },
          "RefSeq": {
            "hgvs": "NP_065171.2:p.Leu190Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "ENST00000327812.12:c.375-463T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS258824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "referenceAllele": "T",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "ENST00000372546.8:c.569T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361625.4:p.Leu190Arg",
        "hgvsWellDefined": "ENSP00000361625.4:p.Leu190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "ENST00000406974.7:c.462-463T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384043.3:n.462-463T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "ENST00000412363.1:c.270-463T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NM_001135917.1:c.462-463T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129389.1:n.462-463T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580445372",
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "T",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NM_020438.4:c.569T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065171.2:p.Leu190Arg",
        "hgvsWellDefined": "NP_065171.2:p.Leu190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NR_072983.1:n.405-463T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "T",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "XR_002956797.1:n.1235T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580445372",
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NM_020438.5:c.569T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065171.2:p.Leu190Arg",
        "hgvsWellDefined": "NP_065171.2:p.Leu190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670012",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372546.9:c.569T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020438.5:c.569T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361625.4:p.Leu190Arg"
          },
          "RefSeq": {
            "hgvs": "NP_065171.2:p.Leu190Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NM_001135917.2:c.462-463T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129389.1:n.462-463T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 462,
          "referenceAllele": "T",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NR_072983.2:n.398-463T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702625"
    }
  ],
  "type": "nucleotide"
}