{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2335089020",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.14126C= (p.Thr4709=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192140",
        "rs": 118192140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 38573304,
          "referenceAllele": "C",
          "start": 38573303
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38573304C=",
        "CM000681.2:g.38573304C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 39063944,
          "referenceAllele": "C",
          "start": 39063943
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39063944C=",
        "CM000681.1:g.39063944C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 43755784,
          "referenceAllele": "C",
          "start": 43755783
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43755784C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144605,
          "referenceAllele": "C",
          "start": 144604
        }
      ],
      "hgvs": [
        "NG_008866.1:g.144605C=",
        "LRG_766:g.144605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.1062C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.2459C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.2431C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14265,
          "referenceAllele": "C",
          "start": 14264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.14126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr4709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14126C="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14126C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr4709="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr4709="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14242,
          "referenceAllele": "C",
          "start": 14241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.14111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Thr4704="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14126,
          "referenceAllele": "C",
          "start": 14125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.14126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr4709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14215,
          "referenceAllele": "C",
          "start": 14214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.14108C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Thr4703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204783",
      "coordinates": [
        {
          "allele": "C",
          "end": 14256,
          "referenceAllele": "C",
          "start": 14255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.14126C=",
        "LRG_766t1:c.14126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr4709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422778",
      "coordinates": [
        {
          "allele": "C",
          "end": 14241,
          "referenceAllele": "C",
          "start": 14240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.14111C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr4704="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14172,
          "referenceAllele": "C",
          "start": 14171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.14108C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr4703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14157,
          "referenceAllele": "C",
          "start": 14156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.14093C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr4698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14187,
          "referenceAllele": "C",
          "start": 14186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.14123C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Thr4708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14103,
          "referenceAllele": "C",
          "start": 14102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.14039C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr4680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14188,
          "referenceAllele": "C",
          "start": 14187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.14108C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr4703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14173,
          "referenceAllele": "C",
          "start": 14172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.14093C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr4698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14119,
          "referenceAllele": "C",
          "start": 14118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.14039C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr4680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204783",
      "coordinates": [
        {
          "allele": "C",
          "end": 14265,
          "referenceAllele": "C",
          "start": 14264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.14126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr4709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14126C="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14126C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr4709="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr4709="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422778",
      "coordinates": [
        {
          "allele": "C",
          "end": 14250,
          "referenceAllele": "C",
          "start": 14249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.14111C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr4704="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}