{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA241224",
  "communityStandardTitle": [
    "NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192131[alleleid]",
        "alleleId": 192131,
        "preferredName": "NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194969",
        "RCV": [
          "RCV000175462",
          "RCV003743621",
          "RCV004020079"
        ],
        "variationId": 194969
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-10357094-G-A",
        "id": "1-10357094-G-A",
        "variant": "1:10357094 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10357094G>A?assembly=hg19",
        "id": "chr1:g.10357094G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.10297036G>A?assembly=hg38",
        "id": "chr1:g.10297036G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/543345616",
        "rs": 543345616
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10357094-G-A?dataset=gnomad_r2_1",
        "id": "1-10357094-G-A",
        "variant": "1:10357094 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10297036-G-A?dataset=gnomad_r3",
        "id": "1-10297036-G-A",
        "variant": "1:10297036 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-10297036-G-A?dataset=gnomad_r4",
        "id": "1-10297036-G-A",
        "variant": "1:10297036 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 10297036,
          "referenceAllele": "G",
          "start": 10297035
        }
      ],
      "hgvs": [
        "NC_000001.11:g.10297036G>A",
        "CM000663.2:g.10297036G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 10357094,
          "referenceAllele": "G",
          "start": 10357093
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10357094G>A",
        "CM000663.1:g.10357094G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 10279681,
          "referenceAllele": "G",
          "start": 10279680
        }
      ],
      "hgvs": [
        "NC_000001.9:g.10279681G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91331,
          "referenceAllele": "G",
          "start": 91330
        }
      ],
      "hgvs": [
        "NG_008069.1:g.91331G>A",
        "LRG_252:g.91331G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696500.1:c.*1035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512666.1:n.*1035G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696502.1:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512668.1:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696503.1:c.1926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512669.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696504.1:c.1926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512670.1:p.Leu642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377093.9:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366297.4:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2389,
          "referenceAllele": "G",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000676179.1:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502065.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.2001G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.2001G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:p.Leu667="
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:p.Leu667="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000263934.10:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263934.6:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377081.5:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366284.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2176,
          "referenceAllele": "G",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377083.5:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366287.1:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377086.5:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366290.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377093.8:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366297.4:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "G",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000620295.2:c.1959G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478500.1:p.Leu653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000622724.3:c.1923G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480063.1:p.Leu641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829768647",
      "coordinates": [
        {
          "allele": "A",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_015074.3:c.1863G>A",
        "LRG_252t1:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055889.2:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830419394",
      "coordinates": [
        {
          "allele": "A",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_183416.3:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_904325.2:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828192199",
      "coordinates": [
        {
          "allele": "A",
          "end": 2389,
          "referenceAllele": "G",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.1:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828194138",
      "coordinates": [
        {
          "allele": "A",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365952.1:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352881.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828195408",
      "coordinates": [
        {
          "allele": "A",
          "end": 2176,
          "referenceAllele": "G",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365953.1:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352882.1:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828192199",
      "coordinates": [
        {
          "allele": "A",
          "end": 2389,
          "referenceAllele": "G",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.3:c.2001G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.2001G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.2001G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:p.Leu667="
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:p.Leu667="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830419394",
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_183416.4:c.1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_904325.2:p.Leu621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701185"
    }
  ],
  "type": "nucleotide"
}