{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2159593323",
  "communityStandardTitle": [
    "NM_001376.5(DYNC1H1):c.1738G= (p.Glu580=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223361",
        "rs": 863223361
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 101985963,
          "referenceAllele": "G",
          "start": 101985962
        }
      ],
      "hgvs": [
        "NC_000014.9:g.101985963G=",
        "CM000676.2:g.101985963G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 102452300,
          "referenceAllele": "G",
          "start": 102452299
        }
      ],
      "hgvs": [
        "NC_000014.8:g.102452300G=",
        "CM000676.1:g.102452300G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 101522053,
          "referenceAllele": "G",
          "start": 101522052
        }
      ],
      "hgvs": [
        "NC_000014.7:g.101522053G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26436,
          "referenceAllele": "G",
          "start": 26435
        }
      ],
      "hgvs": [
        "NG_008777.1:g.26436G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001210"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000684561.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506816.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000360184.10:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348965.4:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360184.10:c.1738G="
          },
          "RefSeq": {
            "hgvs": "NM_001376.5:c.1738G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348965.4:p.Glu580="
          },
          "RefSeq": {
            "hgvs": "NP_001367.2:p.Glu580="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000643508.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495528.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000643684.1:n.1857G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000643958.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505734.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000644881.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495022.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000645039.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495220.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1846,
          "referenceAllele": "G",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000645114.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495884.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000645149.2:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495944.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000679486.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506688.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000679629.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505589.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000679720.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505938.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000679910.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506521.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680001.1:c.*1247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506351.1:n.*1247G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680120.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504863.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680137.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505294.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680200.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506166.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680313.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506208.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680423.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505483.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680715.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505332.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680808.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506446.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000680874.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504911.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681010.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505201.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681066.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506344.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681123.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506124.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681283.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505667.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681311.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505519.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681536.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505821.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681574.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505523.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681668.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506420.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681751.1:c.*1469G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506637.1:n.*1469G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681822.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505744.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000681859.1:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505467.1:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "ENST00000360184.8:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348965.4:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081380899",
      "coordinates": [
        {
          "allele": "G",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NM_001376.4:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001367.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081380899",
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NM_001376.5:c.1738G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001367.2:p.Glu580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360184.10:c.1738G="
          },
          "RefSeq": {
            "hgvs": "NM_001376.5:c.1738G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348965.4:p.Glu580="
          },
          "RefSeq": {
            "hgvs": "NP_001367.2:p.Glu580="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}