{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024130",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76870[alleleid]",
        "alleleId": 76870,
        "preferredName": "NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65962",
        "RCV": [
          "RCV000056209",
          "RCV000119508",
          "RCV001854162"
        ],
        "variationId": 65962
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39070635T>C?assembly=hg19",
        "id": "chr19:g.39070635T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38579995T>C?assembly=hg38",
        "id": "chr19:g.38579995T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192179",
        "rs": 118192179
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 38579995,
          "referenceAllele": "T",
          "start": 38579994
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38579995T>C",
        "CM000681.2:g.38579995T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 39070635,
          "referenceAllele": "T",
          "start": 39070634
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39070635T>C",
        "CM000681.1:g.39070635T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 43762475,
          "referenceAllele": "T",
          "start": 43762474
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43762475T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151296,
          "referenceAllele": "T",
          "start": 151295
        }
      ],
      "hgvs": [
        "NG_008866.1:g.151296T>C",
        "LRG_766:g.151296T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.1314T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2711,
          "referenceAllele": "T",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.2711T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2683,
          "referenceAllele": "T",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.2683T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14517,
          "referenceAllele": "T",
          "start": 14516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.14378T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Leu4793Pro",
        "hgvsWellDefined": "ENSP00000352608.2:p.Leu4793Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14378T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14378T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Leu4793Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Leu4793Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14494,
          "referenceAllele": "T",
          "start": 14493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.14363T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Leu4788Pro",
        "hgvsWellDefined": "ENSP00000347667.3:p.Leu4788Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14378,
          "referenceAllele": "T",
          "start": 14377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.14378T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Leu4793Pro",
        "hgvsWellDefined": "ENSP00000352608.2:p.Leu4793Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14467,
          "referenceAllele": "T",
          "start": 14466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.14360T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Leu4787Pro",
        "hgvsWellDefined": "ENSP00000354254.4:p.Leu4787Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106174",
      "coordinates": [
        {
          "allele": "C",
          "end": 14508,
          "referenceAllele": "T",
          "start": 14507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.14378T>C",
        "LRG_766t1:c.14378T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Leu4793Pro",
        "hgvsWellDefined": "NP_000531.2:p.Leu4793Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422872",
      "coordinates": [
        {
          "allele": "C",
          "end": 14493,
          "referenceAllele": "T",
          "start": 14492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.14363T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Leu4788Pro",
        "hgvsWellDefined": "NP_001036188.1:p.Leu4788Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14424,
          "referenceAllele": "T",
          "start": 14423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.14360T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Leu4787Pro",
        "hgvsWellDefined": "XP_006723380.1:p.Leu4787Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14409,
          "referenceAllele": "T",
          "start": 14408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.14345T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Leu4782Pro",
        "hgvsWellDefined": "XP_006723382.1:p.Leu4782Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14439,
          "referenceAllele": "T",
          "start": 14438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.14375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Leu4792Pro",
        "hgvsWellDefined": "XP_011525506.1:p.Leu4792Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14355,
          "referenceAllele": "T",
          "start": 14354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.14291T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Leu4764Pro",
        "hgvsWellDefined": "XP_011525507.1:p.Leu4764Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14440,
          "referenceAllele": "T",
          "start": 14439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.14360T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Leu4787Pro",
        "hgvsWellDefined": "XP_006723380.1:p.Leu4787Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14425,
          "referenceAllele": "T",
          "start": 14424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.14345T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Leu4782Pro",
        "hgvsWellDefined": "XP_006723382.1:p.Leu4782Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14371,
          "referenceAllele": "T",
          "start": 14370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.14291T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Leu4764Pro",
        "hgvsWellDefined": "XP_011525507.1:p.Leu4764Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106174",
      "coordinates": [
        {
          "allele": "C",
          "end": 14517,
          "referenceAllele": "T",
          "start": 14516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.14378T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Leu4793Pro",
        "hgvsWellDefined": "NP_000531.2:p.Leu4793Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14378T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14378T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Leu4793Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Leu4793Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422872",
      "coordinates": [
        {
          "allele": "C",
          "end": 14502,
          "referenceAllele": "T",
          "start": 14501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.14363T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Leu4788Pro",
        "hgvsWellDefined": "NP_001036188.1:p.Leu4788Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}