{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2335031233",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.1534G= (p.Glu512=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192119",
        "rs": 118192119
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 38455328,
          "referenceAllele": "G",
          "start": 38455327
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38455328G=",
        "CM000681.2:g.38455328G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 38945968,
          "referenceAllele": "G",
          "start": 38945967
        }
      ],
      "hgvs": [
        "NC_000019.9:g.38945968G=",
        "CM000681.1:g.38945968G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 43637808,
          "referenceAllele": "G",
          "start": 43637807
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43637808G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26629,
          "referenceAllele": "G",
          "start": 26628
        }
      ],
      "hgvs": [
        "NG_008866.1:g.26629G=",
        "LRG_766:g.26629G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.1534G="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.1534G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu512="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu512="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1641,
          "referenceAllele": "G",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.1534G=",
        "LRG_766t1:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.1531G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Glu511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XR_001753735.1:n.1617G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.1534G="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.1534G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu512="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu512="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}