{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415110986",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2524388[alleleid]",
        "alleleId": 2524388,
        "preferredName": "NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501485",
        "RCV": [
          "RCV003227280"
        ],
        "variationId": 2501485
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153129873T>A?assembly=hg19",
        "id": "chrX:g.153129873T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153864418T>A?assembly=hg38",
        "id": "chrX:g.153864418T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2064692485",
        "rs": 2064692485
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153864418,
          "referenceAllele": "T",
          "start": 153864417
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153864418T>A",
        "CM000685.2:g.153864418T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153129873,
          "referenceAllele": "T",
          "start": 153129872
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153129873T>A",
        "CM000685.1:g.153129873T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152783067,
          "referenceAllele": "T",
          "start": 152783066
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152783067T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49806,
          "referenceAllele": "A",
          "start": 49805
        }
      ],
      "hgvs": [
        "NG_009645.3:g.49806A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26756,
          "referenceAllele": "A",
          "start": 26755
        }
      ],
      "hgvs": [
        "NG_009645.4:g.26756A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733323"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "A",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.7:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Thr1076Ser",
        "hgvsWellDefined": "ENSP00000359077.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.3226A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.3226A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Thr1076Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Thr1076Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3237,
          "referenceAllele": "A",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361699.8:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355380.4:p.Thr1076Ser",
        "hgvsWellDefined": "ENSP00000355380.4:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3319,
          "referenceAllele": "A",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361981.7:c.3211A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354712.3:p.Thr1071Ser",
        "hgvsWellDefined": "ENSP00000354712.3:p.Thr1071Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3409,
          "referenceAllele": "A",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370055.5:c.3211A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359072.1:p.Thr1071Ser",
        "hgvsWellDefined": "ENSP00000359072.1:p.Thr1071Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370058.7:c.61A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359075.3:p.Thr21Ser",
        "hgvsWellDefined": "ENSP00000359075.3:p.Thr21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "referenceAllele": "A",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.5:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Thr1076Ser",
        "hgvsWellDefined": "ENSP00000359077.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825166340",
      "coordinates": [
        {
          "allele": "T",
          "end": 3435,
          "referenceAllele": "A",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.4:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Thr1076Ser",
        "hgvsWellDefined": "NP_000416.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825860255",
      "coordinates": [
        {
          "allele": "T",
          "end": 3319,
          "referenceAllele": "A",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001143963.2:c.3211A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137435.1:p.Thr1071Ser",
        "hgvsWellDefined": "NP_001137435.1:p.Thr1071Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581006",
      "coordinates": [
        {
          "allele": "T",
          "end": 3444,
          "referenceAllele": "A",
          "start": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Thr1076Ser",
        "hgvsWellDefined": "NP_001265045.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741983887",
      "coordinates": [
        {
          "allele": "T",
          "end": 3334,
          "referenceAllele": "A",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:p.Thr1076Ser",
        "hgvsWellDefined": "NP_076493.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825166340",
      "coordinates": [
        {
          "allele": "T",
          "end": 3404,
          "referenceAllele": "A",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Thr1076Ser",
        "hgvsWellDefined": "NP_000416.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581006",
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "A",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.3226A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Thr1076Ser",
        "hgvsWellDefined": "NP_001265045.1:p.Thr1076Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.3226A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.3226A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Thr1076Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Thr1076Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}