{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123171",
  "communityStandardTitle": [
    "NM_003005.4(SELP):c.1918G>C (p.Val640Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28567[alleleid]",
        "alleleId": 28567,
        "preferredName": "NM_003005.4(SELP):c.1918G>C (p.Val640Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13528",
        "RCV": [
          "RCV000014483"
        ],
        "variationId": 13528
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169565346C>G?assembly=hg19",
        "id": "chr1:g.169565346C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169596108C>G?assembly=hg38",
        "id": "chr1:g.169596108C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6133",
        "rs": 6133
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169596108,
          "referenceAllele": "C",
          "start": 169596107
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169596108C>G",
        "CM000663.2:g.169596108C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169565346,
          "referenceAllele": "C",
          "start": 169565345
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169565346C>G",
        "CM000663.1:g.169565346C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 167831970,
          "referenceAllele": "C",
          "start": 167831969
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167831970C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39032,
          "referenceAllele": "G",
          "start": 39031
        }
      ],
      "hgvs": [
        "NG_012125.1:g.39032G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39032,
          "referenceAllele": "G",
          "start": 39031
        }
      ],
      "hgvs": [
        "NG_012125.2:g.39032G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000263686.11:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263686.5:p.Val640Leu",
        "hgvsWellDefined": "ENSP00000263686.5:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742548",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263686.11:c.1918G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003005.4:c.1918G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263686.5:p.Val640Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002996.2:p.Val640Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000263686.10:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263686.5:p.Val640Leu",
        "hgvsWellDefined": "ENSP00000263686.5:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000367786.6:c.1732G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356760.1:p.Val578Leu",
        "hgvsWellDefined": "ENSP00000356760.1:p.Val578Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000367788.6:c.1732G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356762.1:p.Val578Leu",
        "hgvsWellDefined": "ENSP00000356762.1:p.Val578Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000426706.6:c.1915G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391694.2:p.Val639Leu",
        "hgvsWellDefined": "ENSP00000391694.2:p.Val639Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "ENST00000458599.6:c.1366G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399368.2:p.Val456Leu",
        "hgvsWellDefined": "ENSP00000399368.2:p.Val456Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123172",
      "coordinates": [
        {
          "allele": "C",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "NM_003005.3:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002996.2:p.Val640Leu",
        "hgvsWellDefined": "NP_002996.2:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245435.1:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245492.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245492.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245436.2:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245493.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245493.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245438.1:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245495.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245495.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245439.1:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245496.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245496.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245440.1:c.1732G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245497.1:p.Val578Leu",
        "hgvsWellDefined": "XP_005245497.1:p.Val578Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245435.2:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245492.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245492.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245436.4:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245493.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245493.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245438.2:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245495.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245495.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245439.2:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245496.1:p.Val640Leu",
        "hgvsWellDefined": "XP_005245496.1:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1783,
          "referenceAllele": "G",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "XM_005245440.2:c.1732G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245497.1:p.Val578Leu",
        "hgvsWellDefined": "XP_005245497.1:p.Val578Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123172",
      "coordinates": [
        {
          "allele": "C",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010721",
      "geneNCBI_id": 6403,
      "geneSymbol": "SELP",
      "hgvs": [
        "NM_003005.4:c.1918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002996.2:p.Val640Leu",
        "hgvsWellDefined": "NP_002996.2:p.Val640Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263686.11:c.1918G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003005.4:c.1918G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263686.5:p.Val640Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002996.2:p.Val640Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}