{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580572",
  "communityStandardTitle": [
    "NM_001365951.3(KIF1B):c.4580G= (p.Ser1527=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908164",
        "rs": 121908164
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 10365476,
          "referenceAllele": "G",
          "start": 10365475
        }
      ],
      "hgvs": [
        "NC_000001.11:g.10365476G=",
        "CM000663.2:g.10365476G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 10425534,
          "referenceAllele": "G",
          "start": 10425533
        }
      ],
      "hgvs": [
        "NC_000001.10:g.10425534G=",
        "CM000663.1:g.10425534G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 10348121,
          "referenceAllele": "G",
          "start": 10348120
        }
      ],
      "hgvs": [
        "NC_000001.9:g.10348121G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159771,
          "referenceAllele": "G",
          "start": 159770
        }
      ],
      "hgvs": [
        "NG_008069.1:g.159771G=",
        "LRG_252:g.159771G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4796,
          "referenceAllele": "G",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696502.1:c.4643G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512668.1:p.Ser1548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4658,
          "referenceAllele": "G",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696503.1:c.4505G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512669.1:p.Ser1502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4658,
          "referenceAllele": "G",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000696504.1:c.4505G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512670.1:p.Ser1502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4968,
          "referenceAllele": "G",
          "start": 4967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000676179.1:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502065.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.4580G="
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.4580G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:p.Ser1527="
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:p.Ser1527="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4595,
          "referenceAllele": "G",
          "start": 4594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000263934.10:c.4442G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263934.6:p.Ser1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4659,
          "referenceAllele": "G",
          "start": 4658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377081.5:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366284.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4782,
          "referenceAllele": "G",
          "start": 4781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000377086.5:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366290.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000470616.1:n.311G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4538,
          "referenceAllele": "G",
          "start": 4537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000620295.2:c.4538G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478500.1:p.Ser1513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4502,
          "referenceAllele": "G",
          "start": 4501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000622724.3:c.4502G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480063.1:p.Ser1501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "ENST00000635499.1:c.625G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829770753",
      "coordinates": [
        {
          "allele": "G",
          "end": 4694,
          "referenceAllele": "G",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_015074.3:c.4442G=",
        "LRG_252t1:c.4442G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055889.2:p.Ser1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 905,
          "referenceAllele": "C",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 904
        }
      ],
      "hgvs": [
        "XR_946953.1:n.355+905C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828193304",
      "coordinates": [
        {
          "allele": "G",
          "end": 4968,
          "referenceAllele": "G",
          "start": 4967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.1:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828194621",
      "coordinates": [
        {
          "allele": "G",
          "end": 4782,
          "referenceAllele": "G",
          "start": 4781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365952.1:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352881.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 905,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 904
        }
      ],
      "hgvs": [
        "XR_946953.2:n.230+905C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828193304",
      "coordinates": [
        {
          "allele": "G",
          "end": 4968,
          "referenceAllele": "G",
          "start": 4967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NM_001365951.3:c.4580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352880.1:p.Ser1527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676179.1:c.4580G="
          },
          "RefSeq": {
            "hgvs": "NM_001365951.3:c.4580G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502065.1:p.Ser1527="
          },
          "RefSeq": {
            "hgvs": "NP_001352880.1:p.Ser1527="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}