{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250389",
  "communityStandardTitle": [
    "NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205732[alleleid]",
        "alleleId": 205732,
        "preferredName": "NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209185",
        "RCV": [
          "RCV000196452",
          "RCV000191121",
          "RCV000845061",
          "RCV000766604",
          "RCV003152596",
          "RCV002514095"
        ],
        "variationId": 209185
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-55874559-C-T",
        "id": "2-55874559-C-T",
        "variant": "2:55874559 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55874559C>T?assembly=hg19",
        "id": "chr2:g.55874559C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55647424C>T?assembly=hg38",
        "id": "chr2:g.55647424C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146571352",
        "rs": 146571352
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-55874559-C-T?dataset=gnomad_r2_1",
        "id": "2-55874559-C-T",
        "variant": "2:55874559 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-55647424-C-T?dataset=gnomad_r3",
        "id": "2-55647424-C-T",
        "variant": "2:55647424 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-55647424-C-T?dataset=gnomad_r4",
        "id": "2-55647424-C-T",
        "variant": "2:55647424 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 55647424,
          "referenceAllele": "C",
          "start": 55647423
        }
      ],
      "hgvs": [
        "NC_000002.12:g.55647424C>T",
        "CM000664.2:g.55647424C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 55874559,
          "referenceAllele": "C",
          "start": 55874558
        }
      ],
      "hgvs": [
        "NC_000002.11:g.55874559C>T",
        "CM000664.1:g.55874559C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 55728063,
          "referenceAllele": "C",
          "start": 55728062
        }
      ],
      "hgvs": [
        "NC_000002.10:g.55728063C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51487,
          "referenceAllele": "G",
          "start": 51486
        }
      ],
      "hgvs": [
        "NG_033012.1:g.51487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005349"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.7:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:p.Val509Ile",
        "hgvsWellDefined": "ENSP00000400646.2:p.Val509Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.1525G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.1525G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:p.Val509Ile"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:p.Val509Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000260604.8:c.*1080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260604.4:n.*1080G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1525,
          "referenceAllele": "G",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000415374.5:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393953.1:p.Val509Ile",
        "hgvsWellDefined": "ENSP00000393953.1:p.Val509Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000415489.1:c.532G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "G",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.6:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:p.Val509Ile",
        "hgvsWellDefined": "ENSP00000400646.2:p.Val509Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250390",
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "G",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.4:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:p.Val509Ile",
        "hgvsWellDefined": "NP_149100.2:p.Val509Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.1:c.1285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:p.Val429Ile",
        "hgvsWellDefined": "XP_005264686.1:p.Val429Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_011533142.1:c.*57G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531444.1:n.*57G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.2:c.1285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:p.Val429Ile",
        "hgvsWellDefined": "XP_005264686.1:p.Val429Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_017005172.1:c.1285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860661.1:p.Val429Ile",
        "hgvsWellDefined": "XP_016860661.1:p.Val429Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XR_001739010.1:n.1602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250390",
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.5:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:p.Val509Ile",
        "hgvsWellDefined": "NP_149100.2:p.Val509Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.1525G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.1525G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:p.Val509Ile"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:p.Val509Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}