{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1725938829",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.2024A= (p.Glu675=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1792100189",
        "rs": 1792100189
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92504779,
          "referenceAllele": "T",
          "start": 92504778
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92504779T=",
        "CM000669.2:g.92504779T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92134093,
          "referenceAllele": "T",
          "start": 92134092
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92134093T=",
        "CM000669.1:g.92134093T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 91972029,
          "referenceAllele": "T",
          "start": 91972028
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91972029T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28753,
          "referenceAllele": "A",
          "start": 28752
        }
      ],
      "hgvs": [
        "NG_008341.1:g.28753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28753,
          "referenceAllele": "A",
          "start": 28752
        }
      ],
      "hgvs": [
        "NG_008341.2:g.28753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.2024A="
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.2024A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Glu675="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Glu675="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "A",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1900,
          "endIntronDirection": "+",
          "endIntronOffset": 1469,
          "referenceAllele": "A",
          "start": 1900,
          "startIntronDirection": "+",
          "startIntronOffset": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.1900+1469A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:n.1900+1469A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.1058A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Glu353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2063,
          "referenceAllele": "A",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.2063A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.1700A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074061886",
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "A",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1996,
          "endIntronDirection": "+",
          "endIntronOffset": 1469,
          "referenceAllele": "A",
          "start": 1996,
          "startIntronDirection": "+",
          "startIntronOffset": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1900+1469A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:n.1900+1469A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.1400A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Glu467="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.275A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Glu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "A",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.2120A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.275A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Glu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.1051A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "A",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.2071A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074061886",
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.2024A="
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.2024A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Glu675="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Glu675="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1985,
          "endIntronDirection": "+",
          "endIntronOffset": 1469,
          "referenceAllele": "A",
          "start": 1985,
          "startIntronDirection": "+",
          "startIntronOffset": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1900+1469A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:n.1900+1469A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "referenceAllele": "A",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.1400A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Glu467="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}