{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA405687395",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.14494A>T (p.Thr4832Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39070751A>T?assembly=hg19",
        "id": "chr19:g.39070751A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38580111A>T?assembly=hg38",
        "id": "chr19:g.38580111A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 38580111,
          "referenceAllele": "A",
          "start": 38580110
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38580111A>T",
        "CM000681.2:g.38580111A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 39070751,
          "referenceAllele": "A",
          "start": 39070750
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39070751A>T",
        "CM000681.1:g.39070751A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 43762591,
          "referenceAllele": "A",
          "start": 43762590
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43762591A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151412,
          "referenceAllele": "A",
          "start": 151411
        }
      ],
      "hgvs": [
        "NG_008866.1:g.151412A>T",
        "LRG_766:g.151412A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "A",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.1430A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2827,
          "referenceAllele": "A",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.2827A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2799,
          "referenceAllele": "A",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.2799A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14633,
          "referenceAllele": "A",
          "start": 14632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.14494A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr4832Ser",
        "hgvsWellDefined": "ENSP00000352608.2:p.Thr4832Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14494A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14494A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr4832Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr4832Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14610,
          "referenceAllele": "A",
          "start": 14609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.14479A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Thr4827Ser",
        "hgvsWellDefined": "ENSP00000347667.3:p.Thr4827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14494,
          "referenceAllele": "A",
          "start": 14493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.14494A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Thr4832Ser",
        "hgvsWellDefined": "ENSP00000352608.2:p.Thr4832Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14583,
          "referenceAllele": "A",
          "start": 14582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.14476A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Thr4826Ser",
        "hgvsWellDefined": "ENSP00000354254.4:p.Thr4826Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086624271",
      "coordinates": [
        {
          "allele": "T",
          "end": 14624,
          "referenceAllele": "A",
          "start": 14623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.14494A>T",
        "LRG_766t1:c.14494A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr4832Ser",
        "hgvsWellDefined": "NP_000531.2:p.Thr4832Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14609,
          "referenceAllele": "A",
          "start": 14608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.14479A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr4827Ser",
        "hgvsWellDefined": "NP_001036188.1:p.Thr4827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14540,
          "referenceAllele": "A",
          "start": 14539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.14476A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr4826Ser",
        "hgvsWellDefined": "XP_006723380.1:p.Thr4826Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14525,
          "referenceAllele": "A",
          "start": 14524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.14461A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr4821Ser",
        "hgvsWellDefined": "XP_006723382.1:p.Thr4821Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14555,
          "referenceAllele": "A",
          "start": 14554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.14491A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Thr4831Ser",
        "hgvsWellDefined": "XP_011525506.1:p.Thr4831Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14471,
          "referenceAllele": "A",
          "start": 14470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.14407A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr4803Ser",
        "hgvsWellDefined": "XP_011525507.1:p.Thr4803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14556,
          "referenceAllele": "A",
          "start": 14555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.14476A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Thr4826Ser",
        "hgvsWellDefined": "XP_006723380.1:p.Thr4826Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14541,
          "referenceAllele": "A",
          "start": 14540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.14461A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Thr4821Ser",
        "hgvsWellDefined": "XP_006723382.1:p.Thr4821Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14487,
          "referenceAllele": "A",
          "start": 14486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.14407A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Thr4803Ser",
        "hgvsWellDefined": "XP_011525507.1:p.Thr4803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086624271",
      "coordinates": [
        {
          "allele": "T",
          "end": 14633,
          "referenceAllele": "A",
          "start": 14632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.14494A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Thr4832Ser",
        "hgvsWellDefined": "NP_000531.2:p.Thr4832Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14494A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14494A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Thr4832Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Thr4832Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14618,
          "referenceAllele": "A",
          "start": 14617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.14479A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Thr4827Ser",
        "hgvsWellDefined": "NP_001036188.1:p.Thr4827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}