{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA052986",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573072[alleleid]",
        "alleleId": 573072,
        "preferredName": "NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576534",
        "RCV": [
          "RCV000699049",
          "RCV001331318",
          "RCV003130009",
          "RCV004026463"
        ],
        "variationId": 576534
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-39013682-C-T",
        "id": "19-39013682-C-T",
        "variant": "19:39013682 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39013682C>T?assembly=hg19",
        "id": "chr19:g.39013682C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38523042C>T?assembly=hg38",
        "id": "chr19:g.38523042C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150977342",
        "rs": 150977342
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39013682-C-T?dataset=gnomad_r2_1",
        "id": "19-39013682-C-T",
        "variant": "19:39013682 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38523042-C-T?dataset=gnomad_r3",
        "id": "19-38523042-C-T",
        "variant": "19:38523042 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38523042-C-T?dataset=gnomad_r4",
        "id": "19-38523042-C-T",
        "variant": "19:38523042 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 38523042,
          "referenceAllele": "C",
          "start": 38523041
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38523042C>T",
        "CM000681.2:g.38523042C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 39013682,
          "referenceAllele": "C",
          "start": 39013681
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39013682C>T",
        "CM000681.1:g.39013682C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 43705522,
          "referenceAllele": "C",
          "start": 43705521
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43705522C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94343,
          "referenceAllele": "C",
          "start": 94342
        }
      ],
      "hgvs": [
        "NG_008866.1:g.94343C>T",
        "LRG_766:g.94343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10213,
          "referenceAllele": "C",
          "start": 10212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.10213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:n.10213C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10413,
          "referenceAllele": "C",
          "start": 10412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr3425Met",
        "hgvsWellDefined": "ENSP00000352608.2:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.10274C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.10274C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr3425Met"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr3425Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10405,
          "referenceAllele": "C",
          "start": 10404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Thr3425Met",
        "hgvsWellDefined": "ENSP00000347667.3:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10274,
          "referenceAllele": "C",
          "start": 10273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr3425Met",
        "hgvsWellDefined": "ENSP00000352608.2:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10378,
          "referenceAllele": "C",
          "start": 10377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.10271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Thr3424Met",
        "hgvsWellDefined": "ENSP00000354254.4:p.Thr3424Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3676,
          "referenceAllele": "C",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000594335.5:c.3676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.5:c.1081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891852040",
      "coordinates": [
        {
          "allele": "T",
          "end": 10404,
          "referenceAllele": "C",
          "start": 10403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.10274C>T",
        "LRG_766t1:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr3425Met",
        "hgvsWellDefined": "NP_000531.2:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963003",
      "coordinates": [
        {
          "allele": "T",
          "end": 10404,
          "referenceAllele": "C",
          "start": 10403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr3425Met",
        "hgvsWellDefined": "NP_001036188.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10338,
          "referenceAllele": "C",
          "start": 10337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_006723380.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10338,
          "referenceAllele": "C",
          "start": 10337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_006723382.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10335,
          "referenceAllele": "C",
          "start": 10334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.10271C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Thr3424Met",
        "hgvsWellDefined": "XP_011525506.1:p.Thr3424Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10338,
          "referenceAllele": "C",
          "start": 10337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_011525507.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10354,
          "referenceAllele": "C",
          "start": 10353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_006723380.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10354,
          "referenceAllele": "C",
          "start": 10353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_006723382.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10354,
          "referenceAllele": "C",
          "start": 10353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr3425Met",
        "hgvsWellDefined": "XP_011525507.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891852040",
      "coordinates": [
        {
          "allele": "T",
          "end": 10413,
          "referenceAllele": "C",
          "start": 10412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr3425Met",
        "hgvsWellDefined": "NP_000531.2:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.10274C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.10274C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr3425Met"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr3425Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963003",
      "coordinates": [
        {
          "allele": "T",
          "end": 10413,
          "referenceAllele": "C",
          "start": 10412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.10274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr3425Met",
        "hgvsWellDefined": "NP_001036188.1:p.Thr3425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}