{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200174",
  "communityStandardTitle": [
    "NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190099[alleleid]",
        "alleleId": 190099,
        "preferredName": "NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/192306",
        "RCV": [
          "RCV000172882"
        ],
        "variationId": 192306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180775665T>C?assembly=hg19",
        "id": "chr1:g.180775665T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180806529T>C?assembly=hg38",
        "id": "chr1:g.180806529T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205904",
        "rs": 786205904
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 180806529,
          "referenceAllele": "T",
          "start": 180806528
        }
      ],
      "hgvs": [
        "NC_000001.11:g.180806529T>C",
        "CM000663.2:g.180806529T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 180775665,
          "referenceAllele": "T",
          "start": 180775664
        }
      ],
      "hgvs": [
        "NC_000001.10:g.180775665T>C",
        "CM000663.1:g.180775665T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 179042288,
          "referenceAllele": "T",
          "start": 179042287
        }
      ],
      "hgvs": [
        "NC_000001.9:g.179042288T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179520,
          "referenceAllele": "T",
          "start": 179519
        }
      ],
      "hgvs": [
        "NG_050964.1:g.179520T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "ENST00000367590.9:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356562.4:p.Leu218Ser",
        "hgvsWellDefined": "ENSP00000356562.4:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750044",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367590.9:c.653T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004736.4:c.653T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356562.4:p.Leu218Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004727.2:p.Leu218Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "ENST00000367589.3:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356561.3:p.Leu218Ser",
        "hgvsWellDefined": "ENSP00000356561.3:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "referenceAllele": "T",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "ENST00000367590.8:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356562.4:p.Leu218Ser",
        "hgvsWellDefined": "ENSP00000356562.4:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200175",
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001135669.1:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129141.1:p.Leu218Ser",
        "hgvsWellDefined": "NP_001129141.1:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200176",
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_004736.3:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004727.2:p.Leu218Ser",
        "hgvsWellDefined": "NP_004727.2:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827262257",
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001328662.1:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315591.1:p.Leu218Ser",
        "hgvsWellDefined": "NP_001315591.1:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NR_137330.1:n.845T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200175",
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001135669.2:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129141.1:p.Leu218Ser",
        "hgvsWellDefined": "NP_001129141.1:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827262257",
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001328662.2:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315591.1:p.Leu218Ser",
        "hgvsWellDefined": "NP_001315591.1:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200176",
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_004736.4:c.653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004727.2:p.Leu218Ser",
        "hgvsWellDefined": "NP_004727.2:p.Leu218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367590.9:c.653T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004736.4:c.653T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356562.4:p.Leu218Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004727.2:p.Leu218Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NR_137330.2:n.833T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703977"
    }
  ],
  "type": "nucleotide"
}