{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2193304249",
  "communityStandardTitle": [
    "NM_001386094.1(AGBL1):c.3157C= (p.Arg1053=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/185919705",
        "rs": 185919705
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 86674435,
          "referenceAllele": "C",
          "start": 86674434
        }
      ],
      "hgvs": [
        "NC_000015.10:g.86674435C=",
        "CM000677.2:g.86674435C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87217666,
          "referenceAllele": "C",
          "start": 87217665
        }
      ],
      "hgvs": [
        "NC_000015.9:g.87217666C=",
        "CM000677.1:g.87217666C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 85018670,
          "referenceAllele": "C",
          "start": 85018669
        }
      ],
      "hgvs": [
        "NC_000015.8:g.85018670C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537425,
          "referenceAllele": "C",
          "start": 537424
        }
      ],
      "hgvs": [
        "NG_033836.1:g.537425C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599628,
          "referenceAllele": "C",
          "start": 599627
        }
      ],
      "hgvs": [
        "NG_033836.2:g.599628C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616356"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3220,
          "referenceAllele": "C",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "ENST00000441037.7:c.3220C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413001.3:p.Arg1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3259,
          "referenceAllele": "C",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "ENST00000614907.3:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490608.2:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614907.3:c.3157C="
          },
          "RefSeq": {
            "hgvs": "NM_001386094.1:c.3157C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490608.2:p.Arg1053="
          },
          "RefSeq": {
            "hgvs": "NP_001373023.1:p.Arg1053="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "ENST00000681381.1:n.316C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "hgvs": [
        "ENST00000421325.3:c.3082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397173.3:p.Arg1028="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3177,
          "referenceAllele": "C",
          "start": 3176
        }
      ],
      "hgvs": [
        "ENST00000441037.6:c.3082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413001.2:p.Arg1028="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "NM_152336.2:c.3082C="
      ],
      "proteinEffect": {
        "hgvs": "NP_689549.2:p.Arg1028="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3343,
          "referenceAllele": "C",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_011521226.1:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519528.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3343,
          "referenceAllele": "C",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_011521227.1:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519529.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081943757",
      "coordinates": [
        {
          "allele": "C",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "NM_152336.3:c.3220C="
      ],
      "proteinEffect": {
        "hgvs": "NP_689549.3:p.Arg1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3491,
          "referenceAllele": "C",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_011521226.3:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519528.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3491,
          "referenceAllele": "C",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_011521227.3:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519529.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3458,
          "referenceAllele": "C",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_017021918.2:c.3124C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877407.1:p.Arg1042="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3407,
          "referenceAllele": "C",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "XM_017021919.2:c.3073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877408.1:p.Arg1025="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081943757",
      "coordinates": [
        {
          "allele": "C",
          "end": 3573,
          "referenceAllele": "C",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "NM_152336.4:c.3220C="
      ],
      "proteinEffect": {
        "hgvs": "NP_689549.3:p.Arg1074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082008453",
      "coordinates": [
        {
          "allele": "C",
          "end": 3259,
          "referenceAllele": "C",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "NM_001386094.1:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373023.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614907.3:c.3157C="
          },
          "RefSeq": {
            "hgvs": "NM_001386094.1:c.3157C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490608.2:p.Arg1053="
          },
          "RefSeq": {
            "hgvs": "NP_001373023.1:p.Arg1053="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}