{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041175",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357624[alleleid]",
        "alleleId": 357624,
        "preferredName": "NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371724",
        "RCV": [
          "RCV000409324",
          "RCV000411341"
        ],
        "variationId": 371724
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92148318C>T?assembly=hg19",
        "id": "chr7:g.92148318C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92519004C>T?assembly=hg38",
        "id": "chr7:g.92519004C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517487",
        "rs": 1057517487
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92519004-C-T?dataset=gnomad_r4",
        "id": "7-92519004-C-T",
        "variant": "7:92519004 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92519004,
          "referenceAllele": "C",
          "start": 92519003
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92519004C>T",
        "CM000669.2:g.92519004C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 92148318,
          "referenceAllele": "C",
          "start": 92148317
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92148318C>T",
        "CM000669.1:g.92148318C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 91986254,
          "referenceAllele": "C",
          "start": 91986253
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91986254C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14528,
          "referenceAllele": "G",
          "start": 14527
        }
      ],
      "hgvs": [
        "NG_008341.1:g.14528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14528,
          "referenceAllele": "G",
          "start": 14527
        }
      ],
      "hgvs": [
        "NG_008341.2:g.14528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.348G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.348G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Trp116Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Trp116Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 3098,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.273+3098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:n.273+3098G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.-312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:n.-312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.348G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.348G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Trp116Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Trp116Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.348G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Trp116Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.-312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:n.-312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}