{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6254944",
  "communityStandardTitle": [
    "NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353902[alleleid]",
        "alleleId": 353902,
        "preferredName": "NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369661",
        "RCV": [
          "RCV000408623",
          "RCV000516064",
          "RCV000515875",
          "RCV001805030"
        ],
        "variationId": 369661
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-103126259-T-C",
        "id": "11-103126259-T-C",
        "variant": "11:103126259 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.103126259T>C?assembly=hg19",
        "id": "chr11:g.103126259T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.103255530T>C?assembly=hg38",
        "id": "chr11:g.103255530T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771487311",
        "rs": 771487311
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103126259-T-C?dataset=gnomad_r2_1",
        "id": "11-103126259-T-C",
        "variant": "11:103126259 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103255530-T-C?dataset=gnomad_r3",
        "id": "11-103255530-T-C",
        "variant": "11:103255530 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103255530-T-C?dataset=gnomad_r4",
        "id": "11-103255530-T-C",
        "variant": "11:103255530 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 103255530,
          "referenceAllele": "T",
          "start": 103255529
        }
      ],
      "hgvs": [
        "NC_000011.10:g.103255530T>C",
        "CM000673.2:g.103255530T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 103126259,
          "referenceAllele": "T",
          "start": 103126258
        }
      ],
      "hgvs": [
        "NC_000011.9:g.103126259T>C",
        "CM000673.1:g.103126259T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 102631469,
          "referenceAllele": "T",
          "start": 102631468
        }
      ],
      "hgvs": [
        "NC_000011.8:g.102631469T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151100,
          "referenceAllele": "T",
          "start": 151099
        }
      ],
      "hgvs": [
        "NG_016423.1:g.151100T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151100,
          "referenceAllele": "T",
          "start": 151099
        }
      ],
      "hgvs": [
        "NG_016423.2:g.151100T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10492,
          "referenceAllele": "T",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000650373.2:c.10343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497174.1:p.Leu3448Pro",
        "hgvsWellDefined": "ENSP00000497174.1:p.Leu3448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650373.2:c.10343T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080463.2:c.10343T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497174.1:p.Leu3448Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001073932.1:p.Leu3448Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10471,
          "referenceAllele": "T",
          "start": 10470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000375735.7:c.10322T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364887.2:p.Leu3441Pro",
        "hgvsWellDefined": "ENSP00000364887.2:p.Leu3441Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375735.7:c.10322T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001377.3:c.10322T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364887.2:p.Leu3441Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001368.2:p.Leu3441Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10356,
          "referenceAllele": "T",
          "start": 10355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000650373.1:c.10343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497174.1:p.Leu3448Pro",
        "hgvsWellDefined": "ENSP00000497174.1:p.Leu3448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "endIntronDirection": "+",
          "endIntronOffset": 121111,
          "referenceAllele": "T",
          "start": 2258,
          "startIntronDirection": "+",
          "startIntronOffset": 121110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000334267.11:c.2205+121111T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334021.7:n.2205+121111T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10466,
          "referenceAllele": "T",
          "start": 10465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000375735.6:c.10322T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364887.2:p.Leu3441Pro",
        "hgvsWellDefined": "ENSP00000364887.2:p.Leu3441Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10343,
          "referenceAllele": "T",
          "start": 10342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000398093.7:c.10343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381167.3:p.Leu3448Pro",
        "hgvsWellDefined": "ENSP00000381167.3:p.Leu3448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481177",
      "coordinates": [
        {
          "allele": "C",
          "end": 10487,
          "referenceAllele": "T",
          "start": 10486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001080463.1:c.10343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073932.1:p.Leu3448Pro",
        "hgvsWellDefined": "NP_001073932.1:p.Leu3448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846475",
      "coordinates": [
        {
          "allele": "C",
          "end": 10466,
          "referenceAllele": "T",
          "start": 10465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001377.2:c.10322T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368.2:p.Leu3441Pro",
        "hgvsWellDefined": "NP_001368.2:p.Leu3441Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10445,
          "referenceAllele": "T",
          "start": 10444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_006718903.2:c.10301T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718966.1:p.Leu3434Pro",
        "hgvsWellDefined": "XP_006718966.1:p.Leu3434Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10466,
          "referenceAllele": "T",
          "start": 10465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_017018291.1:c.10322T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873780.1:p.Leu3441Pro",
        "hgvsWellDefined": "XP_016873780.1:p.Leu3441Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9720,
          "referenceAllele": "T",
          "start": 9719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_017018292.1:c.9704T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873781.1:p.Leu3235Pro",
        "hgvsWellDefined": "XP_016873781.1:p.Leu3235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846475",
      "coordinates": [
        {
          "allele": "C",
          "end": 10471,
          "referenceAllele": "T",
          "start": 10470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001377.3:c.10322T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368.2:p.Leu3441Pro",
        "hgvsWellDefined": "NP_001368.2:p.Leu3441Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375735.7:c.10322T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001377.3:c.10322T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364887.2:p.Leu3441Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001368.2:p.Leu3441Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481177",
      "coordinates": [
        {
          "allele": "C",
          "end": 10492,
          "referenceAllele": "T",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001080463.2:c.10343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073932.1:p.Leu3448Pro",
        "hgvsWellDefined": "NP_001073932.1:p.Leu3448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650373.2:c.10343T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080463.2:c.10343T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497174.1:p.Leu3448Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001073932.1:p.Leu3448Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}