{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2339067747",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.1213G= (p.Val405=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937904",
        "rs": 28937904
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46756663,
          "referenceAllele": "G",
          "start": 46756662
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46756663G=",
        "CM000681.2:g.46756663G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47259920,
          "referenceAllele": "G",
          "start": 47259919
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47259920G=",
        "CM000681.1:g.47259920G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51951760,
          "referenceAllele": "G",
          "start": 51951759
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51951760G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15618,
          "referenceAllele": "G",
          "start": 15617
        }
      ],
      "hgvs": [
        "NG_008898.2:g.15618G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.1213G="
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.1213G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val405="
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val405="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 5169,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 5170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-5170G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7998,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7998G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388648",
      "coordinates": [
        {
          "allele": "G",
          "end": 1562,
          "referenceAllele": "G",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023266",
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "referenceAllele": "G",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1893,
          "referenceAllele": "G",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "G",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "referenceAllele": "G",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388648",
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023266",
      "coordinates": [
        {
          "allele": "G",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.1213G="
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.1213G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val405="
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val405="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}