{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA160901749",
  "communityStandardTitle": [
    "NM_001540.5(HSPB1):c.452C>G (p.Thr151Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.75933324C>G?assembly=hg19",
        "id": "chr7:g.75933324C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.76304007C>G?assembly=hg38",
        "id": "chr7:g.76304007C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937568",
        "rs": 28937568
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-76304007-C-G?dataset=gnomad_r3",
        "id": "7-76304007-C-G",
        "variant": "7:76304007 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-76304007-C-G?dataset=gnomad_r4",
        "id": "7-76304007-C-G",
        "variant": "7:76304007 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 76304007,
          "referenceAllele": "C",
          "start": 76304006
        }
      ],
      "hgvs": [
        "NC_000007.14:g.76304007C>G",
        "CM000669.2:g.76304007C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 75933324,
          "referenceAllele": "C",
          "start": 75933323
        }
      ],
      "hgvs": [
        "NC_000007.13:g.75933324C>G",
        "CM000669.1:g.75933324C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 75771260,
          "referenceAllele": "C",
          "start": 75771259
        }
      ],
      "hgvs": [
        "NC_000007.12:g.75771260C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6450,
          "referenceAllele": "C",
          "start": 6449
        }
      ],
      "hgvs": [
        "NG_008995.1:g.6450C>G",
        "LRG_248:g.6450C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001366"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000248553.7:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248553.6:p.Thr151Ser",
        "hgvsWellDefined": "ENSP00000248553.6:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248553.7:c.452C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001540.5:c.452C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248553.6:p.Thr151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001531.1:p.Thr151Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674547.1:c.*43C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502461.1:n.*43C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674638.1:c.447C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502651.1:p.His149Gln",
        "hgvsWellDefined": "ENSP00000502651.1:p.His149Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674650.1:c.388C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501628.1:p.Pro130Ala",
        "hgvsWellDefined": "ENSP00000501628.1:p.Pro130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674965.1:c.*108C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501765.1:n.*108C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675134.1:c.431C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501831.1:p.Thr144Ser",
        "hgvsWellDefined": "ENSP00000501831.1:p.Thr144Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675226.1:c.451C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502510.1:p.Pro151Ala",
        "hgvsWellDefined": "ENSP00000502510.1:p.Pro151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675417.1:n.803C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675538.1:c.487C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502495.1:p.Pro163Ala",
        "hgvsWellDefined": "ENSP00000502495.1:p.Pro163Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675906.1:c.*37C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502714.1:n.*37C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000676231.1:c.482C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502249.1:p.Thr161Ser",
        "hgvsWellDefined": "ENSP00000502249.1:p.Thr161Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000248553.6:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248553.6:p.Thr151Ser",
        "hgvsWellDefined": "ENSP00000248553.6:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000429938.1:c.-53C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405285.1:n.-53C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000447574.1:c.*616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414357.1:n.*616C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073448633",
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.3:c.452C>G",
        "LRG_248t1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001531.1:p.Thr151Ser",
        "hgvsWellDefined": "NP_001531.1:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073448633",
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.4:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001531.1:p.Thr151Ser",
        "hgvsWellDefined": "NP_001531.1:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073448633",
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001531.1:p.Thr151Ser",
        "hgvsWellDefined": "NP_001531.1:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665033",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248553.7:c.452C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001540.5:c.452C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248553.6:p.Thr151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001531.1:p.Thr151Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}