{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1721808",
  "communityStandardTitle": [
    "NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=733575[alleleid]",
        "alleleId": 733575,
        "preferredName": "NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/728350",
        "RCV": [
          "RCV000902820",
          "RCV001139903",
          "RCV001139902",
          "RCV003958170"
        ],
        "variationId": 728350
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-74593655-G-A",
        "id": "2-74593655-G-A",
        "variant": "2:74593655 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74593655G>A?assembly=hg19",
        "id": "chr2:g.74593655G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74366528G>A?assembly=hg38",
        "id": "chr2:g.74366528G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770872113",
        "rs": 770872113
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74593655-G-A?dataset=gnomad_r2_1",
        "id": "2-74593655-G-A",
        "variant": "2:74593655 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74366528-G-A?dataset=gnomad_r3",
        "id": "2-74366528-G-A",
        "variant": "2:74366528 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74366528-G-A?dataset=gnomad_r4",
        "id": "2-74366528-G-A",
        "variant": "2:74366528 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74366528,
          "referenceAllele": "G",
          "start": 74366527
        }
      ],
      "hgvs": [
        "NC_000002.12:g.74366528G>A",
        "CM000664.2:g.74366528G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74593655,
          "referenceAllele": "G",
          "start": 74593654
        }
      ],
      "hgvs": [
        "NC_000002.11:g.74593655G>A",
        "CM000664.1:g.74593655G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74447163,
          "referenceAllele": "G",
          "start": 74447162
        }
      ],
      "hgvs": [
        "NC_000002.10:g.74447163G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30560,
          "referenceAllele": "C",
          "start": 30559
        }
      ],
      "hgvs": [
        "NG_008735.2:g.30560C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.8:c.2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.4:p.Ala853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2833,
          "referenceAllele": "C",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.3:c.2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.2:p.Ala853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.2559C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.2559C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Ala853="
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Ala853="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000680606.1:c.2508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505612.1:p.Ala836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.7:c.2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.3:p.Ala853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2856,
          "referenceAllele": "C",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000394003.7:c.2538C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377571.3:p.Ala846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409240.5:c.2448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386406.1:p.Ala816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409438.5:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387270.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409567.7:c.2499C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386843.3:p.Ala833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2598,
          "referenceAllele": "C",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409868.5:c.2508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387327.1:p.Ala836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000434055.5:c.2448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416711.1:p.Ala816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3538,
          "referenceAllele": "C",
          "start": 3537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000466110.5:n.3538C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 152,
          "referenceAllele": "C",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000495643.1:n.495-153C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 2772,
          "referenceAllele": "C",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000497666.1:n.96+2772C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.2:c.2508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.1:p.Ala836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000633691.1:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487724.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825786948",
      "coordinates": [
        {
          "allele": "T",
          "end": 2817,
          "referenceAllele": "C",
          "start": 2816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.2:c.2499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Ala833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787737",
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.2:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166793",
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.1:c.2448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Ala816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167672",
      "coordinates": [
        {
          "allele": "T",
          "end": 2856,
          "referenceAllele": "C",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.1:c.2538C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Ala846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514902",
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.4:c.2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Ala853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007833",
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.3:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.1:n.2760C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825786948",
      "coordinates": [
        {
          "allele": "T",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.3:c.2499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:p.Ala833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787737",
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.3:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826166793",
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.2:c.2448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:p.Ala816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167672",
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "referenceAllele": "C",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.2:c.2538C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Ala846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828802770",
      "coordinates": [
        {
          "allele": "T",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378991.1:c.2508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365920.1:p.Ala836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828803617",
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378992.1:c.2490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365921.1:p.Ala830="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514902",
      "coordinates": [
        {
          "allele": "T",
          "end": 2833,
          "referenceAllele": "C",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.5:c.2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Ala853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.2559C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.2559C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Ala853="
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Ala853="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007833",
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.4:c.2157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Ala719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.2:n.2539C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730307"
    }
  ],
  "type": "nucleotide"
}