{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368185511",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1810G>C (p.Gly604Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92135652C>G?assembly=hg19",
        "id": "chr7:g.92135652C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92506338C>G?assembly=hg38",
        "id": "chr7:g.92506338C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 92506338,
          "referenceAllele": "C",
          "start": 92506337
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92506338C>G",
        "CM000669.2:g.92506338C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 92135652,
          "referenceAllele": "C",
          "start": 92135651
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92135652C>G",
        "CM000669.1:g.92135652C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 91973588,
          "referenceAllele": "C",
          "start": 91973587
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91973588C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27194,
          "referenceAllele": "G",
          "start": 27193
        }
      ],
      "hgvs": [
        "NG_008341.1:g.27194G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27194,
          "referenceAllele": "G",
          "start": 27193
        }
      ],
      "hgvs": [
        "NG_008341.2:g.27194G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Gly604Arg",
        "hgvsWellDefined": "ENSP00000248633.4:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1810G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1810G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gly604Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gly604Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Gly604Arg",
        "hgvsWellDefined": "ENSP00000248633.4:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000422866.1:c.628G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Gly604Arg",
        "hgvsWellDefined": "ENSP00000394413.1:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.844G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Gly282Arg",
        "hgvsWellDefined": "ENSP00000410438.1:p.Gly282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1849,
          "referenceAllele": "G",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.1849G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.1486G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gly604Arg",
        "hgvsWellDefined": "NP_000457.1:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499245383",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gly604Arg",
        "hgvsWellDefined": "NP_001269606.1:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665617",
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.1186G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gly396Arg",
        "hgvsWellDefined": "NP_001269607.1:p.Gly396Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.61G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Gly21Arg",
        "hgvsWellDefined": "XP_005250490.1:p.Gly21Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1906G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.61G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Gly21Arg",
        "hgvsWellDefined": "XP_016867808.1:p.Gly21Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.837G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1857G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gly604Arg",
        "hgvsWellDefined": "NP_000457.1:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1810G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1810G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gly604Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gly604Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499245383",
      "coordinates": [
        {
          "allele": "C",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1810G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gly604Arg",
        "hgvsWellDefined": "NP_001269606.1:p.Gly604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665617",
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.1186G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gly396Arg",
        "hgvsWellDefined": "NP_001269607.1:p.Gly396Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}