{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415128169",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.1354G>C (p.Gly452Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153134321C>G?assembly=hg19",
        "id": "chrX:g.153134321C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153868866C>G?assembly=hg38",
        "id": "chrX:g.153868866C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153868866,
          "referenceAllele": "C",
          "start": 153868865
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153868866C>G",
        "CM000685.2:g.153868866C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153134321,
          "referenceAllele": "C",
          "start": 153134320
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153134321C>G",
        "CM000685.1:g.153134321C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152787515,
          "referenceAllele": "C",
          "start": 152787514
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152787515C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45358,
          "referenceAllele": "G",
          "start": 45357
        }
      ],
      "hgvs": [
        "NG_009645.3:g.45358G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22308,
          "referenceAllele": "G",
          "start": 22307
        }
      ],
      "hgvs": [
        "NG_009645.4:g.22308G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733323"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.7:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Gly452Arg",
        "hgvsWellDefined": "ENSP00000359077.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1354G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1354G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Gly452Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Gly452Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "G",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361699.8:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355380.4:p.Gly452Arg",
        "hgvsWellDefined": "ENSP00000355380.4:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361981.7:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354712.3:p.Gly447Arg",
        "hgvsWellDefined": "ENSP00000354712.3:p.Gly447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1537,
          "referenceAllele": "G",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370055.5:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359072.1:p.Gly447Arg",
        "hgvsWellDefined": "ENSP00000359072.1:p.Gly447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.5:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Gly452Arg",
        "hgvsWellDefined": "ENSP00000359077.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000484652.1:n.307G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106782",
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.4:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Gly452Arg",
        "hgvsWellDefined": "NP_000416.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825859863",
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001143963.2:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137435.1:p.Gly447Arg",
        "hgvsWellDefined": "NP_001137435.1:p.Gly447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580615",
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "G",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Gly452Arg",
        "hgvsWellDefined": "NP_001265045.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916072325",
      "coordinates": [
        {
          "allele": "C",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:p.Gly452Arg",
        "hgvsWellDefined": "NP_076493.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106782",
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Gly452Arg",
        "hgvsWellDefined": "NP_000416.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580615",
      "coordinates": [
        {
          "allele": "C",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.1354G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Gly452Arg",
        "hgvsWellDefined": "NP_001265045.1:p.Gly452Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1354G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1354G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Gly452Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Gly452Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}