{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10607297",
  "communityStandardTitle": [
    "NM_001365951.3(KIF1B):c.*2268C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275854[alleleid]",
        "alleleId": 275854,
        "preferredName": "NM_001365951.3(KIF1B):c.*2268C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291620",
        "RCV": [
          "RCV000352426",
          "RCV003221889"
        ],
        "variationId": 291620
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10438913C>T?assembly=hg19",
        "id": "chr1:g.10438913C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10378855C>T?assembly=hg38",
        "id": "chr1:g.10378855C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/574858597",
        "rs": 574858597
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10438913-C-T?dataset=gnomad_r2_1",
        "id": "1-10438913-C-T",
        "variant": "1:10438913 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10378855-C-T?dataset=gnomad_r3",
        "id": "1-10378855-C-T",
        "variant": "1:10378855 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10378855-C-T?dataset=gnomad_r4",
        "id": "1-10378855-C-T",
        "variant": "1:10378855 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10378855,
          "referenceAllele": "C",
          "start": 10378854
        }
      ],
      "hgvs": [
        "NC_000001.11:g.10378855C>T",
        "CM000663.2:g.10378855C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10438913,
          "referenceAllele": "C",
          "start": 10438912
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10438913C>T",
        "CM000663.1:g.10438913C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 10361500,
          "referenceAllele": "C",
          "start": 10361499
        }
      ],
      "hgvs": [
        "NC_000001.9:g.10361500C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173150,
          "referenceAllele": "C",
          "start": 173149
        }
      ],
      "hgvs": [
        "NG_008069.1:g.173150C>T",
        "LRG_252:g.173150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8107,
          "referenceAllele": "C",
          "start": 8106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000676179.1:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502065.1:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.*2268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.*2268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:n.*2268C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:n.*2268C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6004,
          "referenceAllele": "C",
          "start": 6003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377081.5:c.*453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366284.1:n.*453C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7921,
          "referenceAllele": "C",
          "start": 7920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377086.5:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366290.1:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5883,
          "referenceAllele": "C",
          "start": 5882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000620295.2:c.5883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478500.1:n.5883C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5847,
          "referenceAllele": "C",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000622724.3:c.5847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480063.1:n.5847C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7833,
          "referenceAllele": "C",
          "start": 7832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_015074.3:c.*2268C>T",
        "LRG_252t1:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055889.2:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8107,
          "referenceAllele": "C",
          "start": 8106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.1:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7921,
          "referenceAllele": "C",
          "start": 7920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365952.1:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352881.1:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8107,
          "referenceAllele": "C",
          "start": 8106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.3:c.*2268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:n.*2268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.*2268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.*2268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:n.*2268C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:n.*2268C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}