{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365763942",
  "communityStandardTitle": [
    "NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=428526[alleleid]",
        "alleleId": 428526,
        "preferredName": "NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/436287",
        "RCV": [
          "RCV000502761",
          "RCV001865618"
        ],
        "variationId": 436287
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137191035T>C?assembly=hg19",
        "id": "chr6:g.137191035T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136869897T>C?assembly=hg38",
        "id": "chr6:g.136869897T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554333880",
        "rs": 1554333880
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 136869897,
          "referenceAllele": "T",
          "start": 136869896
        }
      ],
      "hgvs": [
        "NC_000006.12:g.136869897T>C",
        "CM000668.2:g.136869897T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 137191035,
          "referenceAllele": "T",
          "start": 137191034
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137191035T>C",
        "CM000668.1:g.137191035T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 137232728,
          "referenceAllele": "T",
          "start": 137232727
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137232728T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52318,
          "referenceAllele": "T",
          "start": 52317
        }
      ],
      "hgvs": [
        "NG_008462.1:g.52318T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.5:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.Leu214Pro",
        "hgvsWellDefined": "ENSP00000315680.3:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.641T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.641T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.Leu214Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.Leu214Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "T",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.6:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.Leu214Pro",
        "hgvsWellDefined": "ENSP00000441004.1:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "T",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678002.1:c.329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678557.1:c.527T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502962.1:p.Leu176Pro",
        "hgvsWellDefined": "ENSP00000502962.1:p.Leu176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "T",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678593.1:c.646T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503841.1:n.646T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000679286.1:c.521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503168.1:p.Leu174Pro",
        "hgvsWellDefined": "ENSP00000503168.1:p.Leu174Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "T",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.4:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.Leu214Pro",
        "hgvsWellDefined": "ENSP00000315680.3:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "T",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.5:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.Leu214Pro",
        "hgvsWellDefined": "ENSP00000441004.1:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645478480",
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "T",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.3:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Leu214Pro",
        "hgvsWellDefined": "NP_000279.1:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.3:c.527T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.Leu176Pro",
        "hgvsWellDefined": "XP_005267076.1:p.Leu176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 793,
          "referenceAllele": "T",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.1:c.347T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.Leu116Pro",
        "hgvsWellDefined": "XP_006715565.1:p.Leu116Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "endIntronDirection": "+",
          "endIntronOffset": 23716,
          "referenceAllele": "T",
          "start": 972,
          "startIntronDirection": "+",
          "startIntronOffset": 23715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_011535900.1:c.526+23716T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534202.1:n.526+23716T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "T",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.4:c.527T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.Leu176Pro",
        "hgvsWellDefined": "XP_005267076.1:p.Leu176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.2:c.347T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.Leu116Pro",
        "hgvsWellDefined": "XP_006715565.1:p.Leu116Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "endIntronDirection": "+",
          "endIntronOffset": 23716,
          "referenceAllele": "T",
          "start": 1509,
          "startIntronDirection": "+",
          "startIntronOffset": 23715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_017010934.2:c.526+23716T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866423.1:n.526+23716T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645478480",
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.4:c.641T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Leu214Pro",
        "hgvsWellDefined": "NP_000279.1:p.Leu214Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.641T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.641T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.Leu214Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.Leu214Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}