{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA161960026",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=833934[alleleid]",
        "alleleId": 833934,
        "preferredName": "NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/849144",
        "RCV": [
          "RCV001827334"
        ],
        "variationId": 849144
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92130939A>C?assembly=hg19",
        "id": "chr7:g.92130939A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92501625A>C?assembly=hg38",
        "id": "chr7:g.92501625A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/545731416",
        "rs": 545731416
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92130939-A-C?dataset=gnomad_r2_1",
        "id": "7-92130939-A-C",
        "variant": "7:92130939 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92501625-A-C?dataset=gnomad_r3",
        "id": "7-92501625-A-C",
        "variant": "7:92501625 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92501625-A-C?dataset=gnomad_r4",
        "id": "7-92501625-A-C",
        "variant": "7:92501625 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92501625,
          "referenceAllele": "A",
          "start": 92501624
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92501625A>C",
        "CM000669.2:g.92501625A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92130939,
          "referenceAllele": "A",
          "start": 92130938
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92130939A>C",
        "CM000669.1:g.92130939A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 91968875,
          "referenceAllele": "A",
          "start": 91968874
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91968875A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31907,
          "referenceAllele": "T",
          "start": 31906
        }
      ],
      "hgvs": [
        "NG_008341.1:g.31907T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31907,
          "referenceAllele": "T",
          "start": 31906
        }
      ],
      "hgvs": [
        "NG_008341.2:g.31907T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.2465T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu822Arg",
        "hgvsWellDefined": "ENSP00000248633.4:p.Leu822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.2465T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.2465T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu822Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu822Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2561,
          "referenceAllele": "T",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.2465T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Leu822Arg",
        "hgvsWellDefined": "ENSP00000248633.4:p.Leu822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2294,
          "referenceAllele": "T",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.2294T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Leu765Arg",
        "hgvsWellDefined": "ENSP00000394413.1:p.Leu765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.1499T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Leu500Arg",
        "hgvsWellDefined": "ENSP00000410438.1:p.Leu500Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2504,
          "referenceAllele": "T",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.2504T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "referenceAllele": "T",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.2357T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139675849",
      "coordinates": [
        {
          "allele": "G",
          "end": 2561,
          "referenceAllele": "T",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.2465T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu822Arg",
        "hgvsWellDefined": "NP_000457.1:p.Leu822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664970",
      "coordinates": [
        {
          "allele": "G",
          "end": 2390,
          "referenceAllele": "T",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.2294T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu765Arg",
        "hgvsWellDefined": "NP_001269606.1:p.Leu765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665814",
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "T",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.1841T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu614Arg",
        "hgvsWellDefined": "NP_001269607.1:p.Leu614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "T",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.716T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Leu239Arg",
        "hgvsWellDefined": "XP_005250490.1:p.Leu239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2561,
          "referenceAllele": "T",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.2561T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "T",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.716T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Leu239Arg",
        "hgvsWellDefined": "XP_016867808.1:p.Leu239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "T",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.1492T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2512,
          "referenceAllele": "T",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.2512T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139675849",
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.2465T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Leu822Arg",
        "hgvsWellDefined": "NP_000457.1:p.Leu822Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.2465T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.2465T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu822Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu822Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664970",
      "coordinates": [
        {
          "allele": "G",
          "end": 2379,
          "referenceAllele": "T",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.2294T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu765Arg",
        "hgvsWellDefined": "NP_001269606.1:p.Leu765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665814",
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "T",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.1841T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu614Arg",
        "hgvsWellDefined": "NP_001269607.1:p.Leu614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}