{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4341402",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1434T>G (p.Leu478=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587439[alleleid]",
        "alleleId": 587439,
        "preferredName": "NM_000466.3(PEX1):c.1434T>G (p.Leu478=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596378",
        "RCV": [
          "RCV000732191",
          "RCV001087466"
        ],
        "variationId": 596378
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-92140943-A-C",
        "id": "7-92140943-A-C",
        "variant": "7:92140943 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92140943A>C?assembly=hg19",
        "id": "chr7:g.92140943A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92511629A>C?assembly=hg38",
        "id": "chr7:g.92511629A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757668497",
        "rs": 757668497
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92140943-A-C?dataset=gnomad_r2_1",
        "id": "7-92140943-A-C",
        "variant": "7:92140943 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92511629-A-C?dataset=gnomad_r3",
        "id": "7-92511629-A-C",
        "variant": "7:92511629 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92511629-A-C?dataset=gnomad_r4",
        "id": "7-92511629-A-C",
        "variant": "7:92511629 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92511629,
          "referenceAllele": "A",
          "start": 92511628
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92511629A>C",
        "CM000669.2:g.92511629A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92140943,
          "referenceAllele": "A",
          "start": 92140942
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92140943A>C",
        "CM000669.1:g.92140943A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 91978879,
          "referenceAllele": "A",
          "start": 91978878
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91978879A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21903,
          "referenceAllele": "T",
          "start": 21902
        }
      ],
      "hgvs": [
        "NG_008341.1:g.21903T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21903,
          "referenceAllele": "T",
          "start": 21902
        }
      ],
      "hgvs": [
        "NG_008341.2:g.21903T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1434T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1434T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu478="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu478="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000422866.1:c.335T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Leu156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "T",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000476923.1:n.195T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.1473T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183114",
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664812",
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665500",
      "coordinates": [
        {
          "allele": "G",
          "end": 1565,
          "referenceAllele": "T",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.810T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.-233T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:n.-233T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1530T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.-233T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:n.-233T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.544T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1481T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183114",
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1434T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1434T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu478="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu478="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664812",
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1434T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665500",
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "T",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.810T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}