{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA405678840",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.13703T>G (p.Leu4568Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=469793[alleleid]",
        "alleleId": 469793,
        "preferredName": "NM_000540.3(RYR1):c.13703T>G (p.Leu4568Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/478188",
        "RCV": [
          "RCV000545985",
          "RCV000721329"
        ],
        "variationId": 478188
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39061290T>G?assembly=hg19",
        "id": "chr19:g.39061290T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38570650T>G?assembly=hg38",
        "id": "chr19:g.38570650T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192131",
        "rs": 118192131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 38570650,
          "referenceAllele": "T",
          "start": 38570649
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38570650T>G",
        "CM000681.2:g.38570650T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 39061290,
          "referenceAllele": "T",
          "start": 39061289
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39061290T>G",
        "CM000681.1:g.39061290T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 43753130,
          "referenceAllele": "T",
          "start": 43753129
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43753130T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 141951,
          "referenceAllele": "T",
          "start": 141950
        }
      ],
      "hgvs": [
        "NG_008866.1:g.141951T>G",
        "LRG_766:g.141951T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "T",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.639T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2036,
          "referenceAllele": "T",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.2036T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2051,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "T",
          "start": 2051,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.2052-1369T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13842,
          "referenceAllele": "T",
          "start": 13841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.13703T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Leu4568Arg",
        "hgvsWellDefined": "ENSP00000352608.2:p.Leu4568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13703T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13703T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Leu4568Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Leu4568Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13819,
          "referenceAllele": "T",
          "start": 13818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.13688T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Leu4563Arg",
        "hgvsWellDefined": "ENSP00000347667.3:p.Leu4563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13703,
          "referenceAllele": "T",
          "start": 13702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.13703T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Leu4568Arg",
        "hgvsWellDefined": "ENSP00000352608.2:p.Leu4568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13792,
          "referenceAllele": "T",
          "start": 13791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.13685T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Leu4562Arg",
        "hgvsWellDefined": "ENSP00000354254.4:p.Leu4562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 206,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "T",
          "start": 206,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.1:c.207-1369T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668539",
      "coordinates": [
        {
          "allele": "G",
          "end": 13833,
          "referenceAllele": "T",
          "start": 13832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.13703T>G",
        "LRG_766t1:c.13703T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Leu4568Arg",
        "hgvsWellDefined": "NP_000531.2:p.Leu4568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422613",
      "coordinates": [
        {
          "allele": "G",
          "end": 13818,
          "referenceAllele": "T",
          "start": 13817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.13688T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Leu4563Arg",
        "hgvsWellDefined": "NP_001036188.1:p.Leu4563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13749,
          "referenceAllele": "T",
          "start": 13748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.13685T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Leu4562Arg",
        "hgvsWellDefined": "XP_006723380.1:p.Leu4562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13734,
          "referenceAllele": "T",
          "start": 13733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.13670T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Leu4557Arg",
        "hgvsWellDefined": "XP_006723382.1:p.Leu4557Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13764,
          "referenceAllele": "T",
          "start": 13763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.13700T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Leu4567Arg",
        "hgvsWellDefined": "XP_011525506.1:p.Leu4567Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13723,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "T",
          "start": 13723,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.13660-1369T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:n.13660-1369T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13765,
          "referenceAllele": "T",
          "start": 13764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.13685T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Leu4562Arg",
        "hgvsWellDefined": "XP_006723380.1:p.Leu4562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13750,
          "referenceAllele": "T",
          "start": 13749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.13670T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Leu4557Arg",
        "hgvsWellDefined": "XP_006723382.1:p.Leu4557Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13739,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "T",
          "start": 13739,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.13660-1369T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:n.13660-1369T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668539",
      "coordinates": [
        {
          "allele": "G",
          "end": 13842,
          "referenceAllele": "T",
          "start": 13841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.13703T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Leu4568Arg",
        "hgvsWellDefined": "NP_000531.2:p.Leu4568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13703T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13703T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Leu4568Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Leu4568Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422613",
      "coordinates": [
        {
          "allele": "G",
          "end": 13827,
          "referenceAllele": "T",
          "start": 13826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.13688T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Leu4563Arg",
        "hgvsWellDefined": "NP_001036188.1:p.Leu4563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}