{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1721615",
  "communityStandardTitle": [
    "NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=290609[alleleid]",
        "alleleId": 290609,
        "preferredName": "NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337078",
        "RCV": [
          "RCV000333292",
          "RCV000362337",
          "RCV000517373",
          "RCV000550997",
          "RCV001083433",
          "RCV002323545",
          "RCV003932341"
        ],
        "variationId": 337078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-74592252-C-T",
        "id": "2-74592252-C-T",
        "variant": "2:74592252 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74592252C>T?assembly=hg19",
        "id": "chr2:g.74592252C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74365125C>T?assembly=hg38",
        "id": "chr2:g.74365125C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72659383",
        "rs": 72659383
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74592252-C-T?dataset=gnomad_r2_1",
        "id": "2-74592252-C-T",
        "variant": "2:74592252 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74365125-C-T?dataset=gnomad_r3",
        "id": "2-74365125-C-T",
        "variant": "2:74365125 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74365125-C-T?dataset=gnomad_r4",
        "id": "2-74365125-C-T",
        "variant": "2:74365125 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 74365125,
          "referenceAllele": "C",
          "start": 74365124
        }
      ],
      "hgvs": [
        "NC_000002.12:g.74365125C>T",
        "CM000664.2:g.74365125C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 74592252,
          "referenceAllele": "C",
          "start": 74592251
        }
      ],
      "hgvs": [
        "NC_000002.11:g.74592252C>T",
        "CM000664.1:g.74592252C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 74445760,
          "referenceAllele": "C",
          "start": 74445759
        }
      ],
      "hgvs": [
        "NC_000002.10:g.74445760C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31963,
          "referenceAllele": "G",
          "start": 31962
        }
      ],
      "hgvs": [
        "NG_008735.2:g.31963G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.8:c.3146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.4:p.Arg1049Gln",
        "hgvsWellDefined": "ENSP00000354791.4:p.Arg1049Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.3:c.3146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.2:p.Arg1049Gln",
        "hgvsWellDefined": "ENSP00000487279.2:p.Arg1049Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.3146G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.3146G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Arg1049Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Arg1049Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000680606.1:c.3095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505612.1:p.Arg1032Gln",
        "hgvsWellDefined": "ENSP00000505612.1:p.Arg1032Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.7:c.3146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.3:p.Arg1049Gln",
        "hgvsWellDefined": "ENSP00000354791.3:p.Arg1049Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3443,
          "referenceAllele": "G",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000394003.7:c.3125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377571.3:p.Arg1042Gln",
        "hgvsWellDefined": "ENSP00000377571.3:p.Arg1042Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409240.5:c.3035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386406.1:p.Arg1012Gln",
        "hgvsWellDefined": "ENSP00000386406.1:p.Arg1012Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409438.5:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387270.1:p.Arg915Gln",
        "hgvsWellDefined": "ENSP00000387270.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3348,
          "referenceAllele": "G",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409567.7:c.3086G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386843.3:p.Arg1029Gln",
        "hgvsWellDefined": "ENSP00000386843.3:p.Arg1029Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3185,
          "referenceAllele": "G",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409868.5:c.3095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387327.1:p.Arg1032Gln",
        "hgvsWellDefined": "ENSP00000387327.1:p.Arg1032Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3210,
          "referenceAllele": "G",
          "start": 3209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000434055.5:c.*445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416711.1:n.*445G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4398,
          "referenceAllele": "G",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000466110.5:n.4398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 3587,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 3588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000497666.1:n.97-3588G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.2:c.3095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.1:p.Arg1032Gln",
        "hgvsWellDefined": "ENSP00000487279.1:p.Arg1032Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000633691.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487724.1:p.Arg915Gln",
        "hgvsWellDefined": "ENSP00000487724.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787073",
      "coordinates": [
        {
          "allele": "A",
          "end": 3404,
          "referenceAllele": "G",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.2:c.3086G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Arg1029Gln",
        "hgvsWellDefined": "NP_001128512.1:p.Arg1029Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787862",
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.2:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Arg915Gln",
        "hgvsWellDefined": "NP_001128513.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166911",
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.1:c.3035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Arg1012Gln",
        "hgvsWellDefined": "NP_001177765.1:p.Arg1012Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3443,
          "referenceAllele": "G",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.1:c.3125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Arg1042Gln",
        "hgvsWellDefined": "NP_001177766.1:p.Arg1042Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514959",
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.4:c.3146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Arg1049Gln",
        "hgvsWellDefined": "NP_004073.2:p.Arg1049Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446607",
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.3:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Arg915Gln",
        "hgvsWellDefined": "NP_075408.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3430,
          "referenceAllele": "G",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.1:n.3430G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787073",
      "coordinates": [
        {
          "allele": "A",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.3:c.3086G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Arg1029Gln",
        "hgvsWellDefined": "NP_001128512.1:p.Arg1029Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787862",
      "coordinates": [
        {
          "allele": "A",
          "end": 3059,
          "referenceAllele": "G",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.3:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Arg915Gln",
        "hgvsWellDefined": "NP_001128513.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166911",
      "coordinates": [
        {
          "allele": "A",
          "end": 3126,
          "referenceAllele": "G",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.2:c.3035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Arg1012Gln",
        "hgvsWellDefined": "NP_001177765.1:p.Arg1012Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3399,
          "referenceAllele": "G",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.2:c.3125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Arg1042Gln",
        "hgvsWellDefined": "NP_001177766.1:p.Arg1042Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828802892",
      "coordinates": [
        {
          "allele": "A",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378991.1:c.3095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365920.1:p.Arg1032Gln",
        "hgvsWellDefined": "NP_001365920.1:p.Arg1032Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828803741",
      "coordinates": [
        {
          "allele": "A",
          "end": 3168,
          "referenceAllele": "G",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378992.1:c.3077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365921.1:p.Arg1026Gln",
        "hgvsWellDefined": "NP_001365921.1:p.Arg1026Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514959",
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.5:c.3146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Arg1049Gln",
        "hgvsWellDefined": "NP_004073.2:p.Arg1049Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.3146G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.3146G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Arg1049Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Arg1049Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446607",
      "coordinates": [
        {
          "allele": "A",
          "end": 3059,
          "referenceAllele": "G",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.4:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Arg915Gln",
        "hgvsWellDefined": "NP_075408.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3209,
          "referenceAllele": "G",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.2:n.3209G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730307"
    }
  ],
  "type": "nucleotide"
}