{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10607340",
  "communityStandardTitle": [
    "NM_001365951.3(KIF1B):c.*839C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275912[alleleid]",
        "alleleId": 275912,
        "preferredName": "NM_001365951.3(KIF1B):c.*839C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291601",
        "RCV": [
          "RCV000343578",
          "RCV003422207"
        ],
        "variationId": 291601
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10437484C>T?assembly=hg19",
        "id": "chr1:g.10437484C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10377426C>T?assembly=hg38",
        "id": "chr1:g.10377426C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/549614550",
        "rs": 549614550
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10437484-C-T?dataset=gnomad_r2_1",
        "id": "1-10437484-C-T",
        "variant": "1:10437484 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10377426-C-T?dataset=gnomad_r3",
        "id": "1-10377426-C-T",
        "variant": "1:10377426 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10377426-C-T?dataset=gnomad_r4",
        "id": "1-10377426-C-T",
        "variant": "1:10377426 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10377426,
          "referenceAllele": "C",
          "start": 10377425
        }
      ],
      "hgvs": [
        "NC_000001.11:g.10377426C>T",
        "CM000663.2:g.10377426C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10437484,
          "referenceAllele": "C",
          "start": 10437483
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10437484C>T",
        "CM000663.1:g.10437484C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10360071,
          "referenceAllele": "C",
          "start": 10360070
        }
      ],
      "hgvs": [
        "NC_000001.9:g.10360071C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171721,
          "referenceAllele": "C",
          "start": 171720
        }
      ],
      "hgvs": [
        "NG_008069.1:g.171721C>T",
        "LRG_252:g.171721C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6506,
          "referenceAllele": "C",
          "start": 6505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696502.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512668.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6368,
          "referenceAllele": "C",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696503.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512669.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6368,
          "referenceAllele": "C",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696504.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512670.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6678,
          "referenceAllele": "C",
          "start": 6677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000676179.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502065.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.*839C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.*839C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:n.*839C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:n.*839C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6305,
          "referenceAllele": "C",
          "start": 6304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000263934.10:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263934.6:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5487,
          "endIntronDirection": "-",
          "endIntronOffset": 912,
          "referenceAllele": "C",
          "start": 5487,
          "startIntronDirection": "-",
          "startIntronOffset": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377081.5:c.5409-913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366284.1:n.5409-913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6492,
          "referenceAllele": "C",
          "start": 6491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377086.5:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366290.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5366,
          "endIntronDirection": "-",
          "endIntronOffset": 912,
          "referenceAllele": "C",
          "start": 5366,
          "startIntronDirection": "-",
          "startIntronOffset": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000620295.2:c.5367-913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478500.1:n.5367-913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5330,
          "endIntronDirection": "-",
          "endIntronOffset": 912,
          "referenceAllele": "C",
          "start": 5330,
          "startIntronDirection": "-",
          "startIntronOffset": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000622724.3:c.5331-913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480063.1:n.5331-913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6404,
          "referenceAllele": "C",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_015074.3:c.*839C>T",
        "LRG_252t1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055889.2:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6678,
          "referenceAllele": "C",
          "start": 6677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6492,
          "referenceAllele": "C",
          "start": 6491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365952.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352881.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6678,
          "referenceAllele": "C",
          "start": 6677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.3:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.*839C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.*839C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:n.*839C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:n.*839C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}