{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA069757",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=996027",
        "active": true,
        "id": "COSM996027"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333379[alleleid]",
        "alleleId": 333379,
        "preferredName": "NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/329064",
        "RCV": [
          "RCV000272030",
          "RCV000329583",
          "RCV000320313",
          "RCV000359718",
          "RCV000655719",
          "RCV001085945"
        ],
        "variationId": 329064
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-38991552-C-T",
        "id": "19-38991552-C-T",
        "variant": "19:38991552 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38991552C>T?assembly=hg19",
        "id": "chr19:g.38991552C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38500912C>T?assembly=hg38",
        "id": "chr19:g.38500912C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368560744",
        "rs": 368560744
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38991552-C-T?dataset=gnomad_r2_1",
        "id": "19-38991552-C-T",
        "variant": "19:38991552 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38500912-C-T?dataset=gnomad_r3",
        "id": "19-38500912-C-T",
        "variant": "19:38500912 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38500912-C-T?dataset=gnomad_r4",
        "id": "19-38500912-C-T",
        "variant": "19:38500912 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 38500912,
          "referenceAllele": "C",
          "start": 38500911
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38500912C>T",
        "CM000681.2:g.38500912C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 38991552,
          "referenceAllele": "C",
          "start": 38991551
        }
      ],
      "hgvs": [
        "NC_000019.9:g.38991552C>T",
        "CM000681.1:g.38991552C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 43683392,
          "referenceAllele": "C",
          "start": 43683391
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43683392C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72213,
          "referenceAllele": "C",
          "start": 72212
        }
      ],
      "hgvs": [
        "NG_008866.1:g.72213C>T",
        "LRG_766:g.72213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7536,
          "referenceAllele": "C",
          "start": 7535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7675,
          "referenceAllele": "C",
          "start": 7674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.7536C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.7536C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Ile2512="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Ile2512="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7667,
          "referenceAllele": "C",
          "start": 7666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7536,
          "referenceAllele": "C",
          "start": 7535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7640,
          "referenceAllele": "C",
          "start": 7639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.7533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Ile2511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000594335.5:c.988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200828",
      "coordinates": [
        {
          "allele": "T",
          "end": 7666,
          "referenceAllele": "C",
          "start": 7665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.7536C>T",
        "LRG_766t1:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825420738",
      "coordinates": [
        {
          "allele": "T",
          "end": 7666,
          "referenceAllele": "C",
          "start": 7665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7600,
          "referenceAllele": "C",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7600,
          "referenceAllele": "C",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7597,
          "referenceAllele": "C",
          "start": 7596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.7533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Ile2511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7600,
          "referenceAllele": "C",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7616,
          "referenceAllele": "C",
          "start": 7615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7616,
          "referenceAllele": "C",
          "start": 7615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7616,
          "referenceAllele": "C",
          "start": 7615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7619,
          "referenceAllele": "C",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XR_001753735.1:n.7619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200828",
      "coordinates": [
        {
          "allele": "T",
          "end": 7675,
          "referenceAllele": "C",
          "start": 7674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.7536C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.7536C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Ile2512="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Ile2512="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825420738",
      "coordinates": [
        {
          "allele": "T",
          "end": 7675,
          "referenceAllele": "C",
          "start": 7674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.7536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Ile2512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}