{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4341315",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1725G>A (p.Leu575=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=489389[alleleid]",
        "alleleId": 489389,
        "preferredName": "NM_000466.3(PEX1):c.1725G>A (p.Leu575=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497965",
        "RCV": [
          "RCV000593815",
          "RCV001086000",
          "RCV001277307",
          "RCV003927907"
        ],
        "variationId": 497965
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-92136386-C-T",
        "id": "7-92136386-C-T",
        "variant": "7:92136386 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92136386C>T?assembly=hg19",
        "id": "chr7:g.92136386C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92507072C>T?assembly=hg38",
        "id": "chr7:g.92507072C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150667796",
        "rs": 150667796
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92136386-C-T?dataset=gnomad_r2_1",
        "id": "7-92136386-C-T",
        "variant": "7:92136386 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92507072-C-T?dataset=gnomad_r3",
        "id": "7-92507072-C-T",
        "variant": "7:92507072 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92507072-C-T?dataset=gnomad_r4",
        "id": "7-92507072-C-T",
        "variant": "7:92507072 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92507072,
          "referenceAllele": "C",
          "start": 92507071
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92507072C>T",
        "CM000669.2:g.92507072C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92136386,
          "referenceAllele": "C",
          "start": 92136385
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92136386C>T",
        "CM000669.1:g.92136386C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 91974322,
          "referenceAllele": "C",
          "start": 91974321
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91974322C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26460,
          "referenceAllele": "G",
          "start": 26459
        }
      ],
      "hgvs": [
        "NG_008341.1:g.26460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26460,
          "referenceAllele": "G",
          "start": 26459
        }
      ],
      "hgvs": [
        "NG_008341.2:g.26460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1725G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1725G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu575="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu575="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000422866.1:c.543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Leu253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.1764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.752G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183246",
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664844",
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.1101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.-25G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:n.-25G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1821G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.-25G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:n.-25G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.752G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183246",
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1725G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1725G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu575="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu575="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664844",
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.1101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}