{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2000482132",
  "communityStandardTitle": [
    "NM_001289808.2(CRYAB):c.165G= (p.Leu55=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2228387",
        "rs": 2228387
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111911560,
          "referenceAllele": "C",
          "start": 111911559
        }
      ],
      "hgvs": [
        "NC_000011.10:g.111911560C=",
        "CM000673.2:g.111911560C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111782284,
          "referenceAllele": "C",
          "start": 111782283
        }
      ],
      "hgvs": [
        "NC_000011.9:g.111782284C=",
        "CM000673.1:g.111782284C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111287494,
          "referenceAllele": "C",
          "start": 111287493
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111287494C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17163,
          "referenceAllele": "G",
          "start": 17162
        }
      ],
      "hgvs": [
        "NG_009824.2:g.17163G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3825,
          "referenceAllele": "C",
          "start": 3824
        }
      ],
      "hgvs": [
        "NG_033080.1:g.3825C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17163,
          "referenceAllele": "G",
          "start": 17162
        }
      ],
      "hgvs": [
        "NG_009824.3:g.17163G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3825,
          "referenceAllele": "C",
          "start": 3824
        }
      ],
      "hgvs": [
        "NG_033080.2:g.3825C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673883"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000526180.6:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436051.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000527899.6:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436089.2:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533475.6:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433560.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533879.2:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435931.2:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533971.2:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434269.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000616970.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483554.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000650687.2:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499082.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771253",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650687.2:c.165G="
          },
          "RefSeq": {
            "hgvs": "NM_001289808.2:c.165G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000499082.1:p.Leu55="
          },
          "RefSeq": {
            "hgvs": "NP_001276737.1:p.Leu55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000651164.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498735.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000652223.1:n.477G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000652606.1:n.409G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000227251.7:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227251.3:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000526180.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436051.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000527899.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436089.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000527950.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437149.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000528628.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432182.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000529647.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431754.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000531198.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434247.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533475.5:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433560.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533879.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435931.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000533971.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434269.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "ENST00000616970.4:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483554.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826768202",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001289807.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276736.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826768397",
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001289808.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276737.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829355138",
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001885.2:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001876.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "XM_011542608.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540910.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826768397",
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001289808.2:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276737.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682660",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650687.2:c.165G="
          },
          "RefSeq": {
            "hgvs": "NM_001289808.2:c.165G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000499082.1:p.Leu55="
          },
          "RefSeq": {
            "hgvs": "NP_001276737.1:p.Leu55="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828286813",
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001368245.1:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355174.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829355138",
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002389",
      "geneNCBI_id": 1410,
      "geneSymbol": "CRYAB",
      "hgvs": [
        "NM_001885.3:c.165G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001876.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695394"
    }
  ],
  "type": "nucleotide"
}