{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367765802",
  "communityStandardTitle": [
    "NM_001540.5(HSPB1):c.451A>T (p.Thr151Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.75933323A>T?assembly=hg19",
        "id": "chr7:g.75933323A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.76304006A>T?assembly=hg38",
        "id": "chr7:g.76304006A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 76304006,
          "referenceAllele": "A",
          "start": 76304005
        }
      ],
      "hgvs": [
        "NC_000007.14:g.76304006A>T",
        "CM000669.2:g.76304006A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 75933323,
          "referenceAllele": "A",
          "start": 75933322
        }
      ],
      "hgvs": [
        "NC_000007.13:g.75933323A>T",
        "CM000669.1:g.75933323A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 75771259,
          "referenceAllele": "A",
          "start": 75771258
        }
      ],
      "hgvs": [
        "NC_000007.12:g.75771259A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6449,
          "referenceAllele": "A",
          "start": 6448
        }
      ],
      "hgvs": [
        "NG_008995.1:g.6449A>T",
        "LRG_248:g.6449A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001366"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000248553.7:c.451A>T"
      ],
      "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.451A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001540.5:c.451A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248553.6:p.Thr151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001531.1:p.Thr151Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674547.1:c.*42A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502461.1:n.*42A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "A",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674638.1:c.446A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502651.1:p.His149Leu",
        "hgvsWellDefined": "ENSP00000502651.1:p.His149Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674650.1:c.387A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501628.1:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000674965.1:c.*107A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501765.1:n.*107A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675134.1:c.430A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501831.1:p.Thr144Ser",
        "hgvsWellDefined": "ENSP00000501831.1:p.Thr144Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675226.1:c.450A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502510.1:p.Pro150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675417.1:n.802A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675538.1:c.486A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502495.1:p.Pro162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000675906.1:c.*36A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502714.1:n.*36A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000676231.1:c.481A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502249.1:p.Thr161Ser",
        "hgvsWellDefined": "ENSP00000502249.1:p.Thr161Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000248553.6:c.451A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248553.6:p.Thr151Ser",
        "hgvsWellDefined": "ENSP00000248553.6:p.Thr151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "referenceAllele": "A",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000429938.1:c.-54A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405285.1:n.-54A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "A",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "ENST00000447574.1:c.*615A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414357.1:n.*615A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073448633",
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.3:c.451A>T",
        "LRG_248t1:c.451A>T"
      ],
      "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": "T",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.4:c.451A>T"
      ],
      "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": "T",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NM_001540.5:c.451A>T"
      ],
      "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.451A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001540.5:c.451A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248553.6:p.Thr151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001531.1:p.Thr151Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}