{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1721887",
  "communityStandardTitle": [
    "NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=290865[alleleid]",
        "alleleId": 290865,
        "preferredName": "NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337081",
        "RCV": [
          "RCV000278941",
          "RCV000336449",
          "RCV000555724",
          "RCV000517874",
          "RCV000997172",
          "RCV002446597",
          "RCV003418060"
        ],
        "variationId": 337081
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-74594210-T-C",
        "id": "2-74594210-T-C",
        "variant": "2:74594210 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74594210T>C?assembly=hg19",
        "id": "chr2:g.74594210T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74367083T>C?assembly=hg38",
        "id": "chr2:g.74367083T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754780894",
        "rs": 754780894
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74594210-T-C?dataset=gnomad_r2_1",
        "id": "2-74594210-T-C",
        "variant": "2:74594210 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74367083-T-C?dataset=gnomad_r3",
        "id": "2-74367083-T-C",
        "variant": "2:74367083 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74367083-T-C?dataset=gnomad_r4",
        "id": "2-74367083-T-C",
        "variant": "2:74367083 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 74367083,
          "referenceAllele": "T",
          "start": 74367082
        }
      ],
      "hgvs": [
        "NC_000002.12:g.74367083T>C",
        "CM000664.2:g.74367083T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 74594210,
          "referenceAllele": "T",
          "start": 74594209
        }
      ],
      "hgvs": [
        "NC_000002.11:g.74594210T>C",
        "CM000664.1:g.74594210T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 74447718,
          "referenceAllele": "T",
          "start": 74447717
        }
      ],
      "hgvs": [
        "NC_000002.10:g.74447718T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30005,
          "referenceAllele": "A",
          "start": 30004
        }
      ],
      "hgvs": [
        "NG_008735.2:g.30005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.8:c.2278A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.4:p.Met760Val",
        "hgvsWellDefined": "ENSP00000354791.4:p.Met760Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2552,
          "referenceAllele": "A",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.3:c.2278A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.2:p.Met760Val",
        "hgvsWellDefined": "ENSP00000487279.2:p.Met760Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.2278A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.2278A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Met760Val"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Met760Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "A",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000680606.1:c.2227A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505612.1:p.Met743Val",
        "hgvsWellDefined": "ENSP00000505612.1:p.Met743Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.7:c.2278A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.3:p.Met760Val",
        "hgvsWellDefined": "ENSP00000354791.3:p.Met760Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "A",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000394003.7:c.2257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377571.3:p.Met753Val",
        "hgvsWellDefined": "ENSP00000377571.3:p.Met753Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2479,
          "referenceAllele": "A",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409240.5:c.2167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386406.1:p.Met723Val",
        "hgvsWellDefined": "ENSP00000386406.1:p.Met723Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409438.5:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387270.1:p.Met626Val",
        "hgvsWellDefined": "ENSP00000387270.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2480,
          "referenceAllele": "A",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409567.7:c.2218A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386843.3:p.Met740Val",
        "hgvsWellDefined": "ENSP00000386843.3:p.Met740Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2317,
          "referenceAllele": "A",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409868.5:c.2227A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387327.1:p.Met743Val",
        "hgvsWellDefined": "ENSP00000387327.1:p.Met743Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000434055.5:c.2167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416711.1:p.Met723Val",
        "hgvsWellDefined": "ENSP00000416711.1:p.Met723Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3095,
          "referenceAllele": "A",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000466110.5:n.3095A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 306,
          "referenceAllele": "A",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000495643.1:n.306A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 2217,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000497666.1:n.96+2217A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.2:c.2227A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.1:p.Met743Val",
        "hgvsWellDefined": "ENSP00000487279.1:p.Met743Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000633691.1:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487724.1:p.Met626Val",
        "hgvsWellDefined": "ENSP00000487724.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825786869",
      "coordinates": [
        {
          "allele": "G",
          "end": 2536,
          "referenceAllele": "A",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.2:c.2218A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Met740Val",
        "hgvsWellDefined": "NP_001128512.1:p.Met740Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787659",
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.2:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Met626Val",
        "hgvsWellDefined": "NP_001128513.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166714",
      "coordinates": [
        {
          "allele": "G",
          "end": 2479,
          "referenceAllele": "A",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.1:c.2167A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Met723Val",
        "hgvsWellDefined": "NP_001177765.1:p.Met723Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167593",
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "A",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.1:c.2257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Met753Val",
        "hgvsWellDefined": "NP_001177766.1:p.Met753Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480344",
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.4:c.2278A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Met760Val",
        "hgvsWellDefined": "NP_004073.2:p.Met760Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007713",
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.3:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Met626Val",
        "hgvsWellDefined": "NP_075408.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2479,
          "referenceAllele": "A",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.1:n.2479A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825786869",
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.3:c.2218A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Met740Val",
        "hgvsWellDefined": "NP_001128512.1:p.Met740Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787659",
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "referenceAllele": "A",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.3:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Met626Val",
        "hgvsWellDefined": "NP_001128513.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166714",
      "coordinates": [
        {
          "allele": "G",
          "end": 2258,
          "referenceAllele": "A",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.2:c.2167A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Met723Val",
        "hgvsWellDefined": "NP_001177765.1:p.Met723Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167593",
      "coordinates": [
        {
          "allele": "G",
          "end": 2531,
          "referenceAllele": "A",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.2:c.2257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Met753Val",
        "hgvsWellDefined": "NP_001177766.1:p.Met753Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828802691",
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "A",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378991.1:c.2227A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365920.1:p.Met743Val",
        "hgvsWellDefined": "NP_001365920.1:p.Met743Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828803538",
      "coordinates": [
        {
          "allele": "G",
          "end": 2300,
          "referenceAllele": "A",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378992.1:c.2209A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365921.1:p.Met737Val",
        "hgvsWellDefined": "NP_001365921.1:p.Met737Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480344",
      "coordinates": [
        {
          "allele": "G",
          "end": 2552,
          "referenceAllele": "A",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.5:c.2278A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Met760Val",
        "hgvsWellDefined": "NP_004073.2:p.Met760Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.2278A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.2278A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Met760Val"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Met760Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007713",
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "referenceAllele": "A",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.4:c.1876A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Met626Val",
        "hgvsWellDefined": "NP_075408.1:p.Met626Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2258,
          "referenceAllele": "A",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.2:n.2258A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730307"
    }
  ],
  "type": "nucleotide"
}