{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150723",
  "communityStandardTitle": [
    "NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106831[alleleid]",
        "alleleId": 106831,
        "preferredName": "NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/101066",
        "RCV": [
          "RCV000087323"
        ],
        "variationId": 101066
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.4925567C>T?assembly=hg19",
        "id": "chr17:g.4925567C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.5022272C>T?assembly=hg38",
        "id": "chr17:g.5022272C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777197",
        "rs": 587777197
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-5022272-C-T?dataset=gnomad_r4",
        "id": "17-5022272-C-T",
        "variant": "17:5022272 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 5022272,
          "referenceAllele": "C",
          "start": 5022271
        }
      ],
      "hgvs": [
        "NC_000017.11:g.5022272C>T",
        "CM000679.2:g.5022272C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 4925567,
          "referenceAllele": "C",
          "start": 4925566
        }
      ],
      "hgvs": [
        "NC_000017.10:g.4925567C>T",
        "CM000679.1:g.4925567C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 4866291,
          "referenceAllele": "C",
          "start": 4866290
        }
      ],
      "hgvs": [
        "NC_000017.9:g.4866291C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29325,
          "referenceAllele": "C",
          "start": 29324
        }
      ],
      "hgvs": [
        "NG_034137.1:g.29325C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005767"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2546,
          "referenceAllele": "C",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "ENST00000320785.10:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320821.5:p.Arg731Ter",
        "hgvsWellDefined": "ENSP00000320821.5:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320785.10:c.2191C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006612.6:c.2191C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320821.5:p.Arg731Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006603.2:p.Arg731Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2548,
          "referenceAllele": "C",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320821.5:p.Arg731Ter",
        "hgvsWellDefined": "ENSP00000320821.5:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150724",
      "coordinates": [
        {
          "allele": "T",
          "end": 2548,
          "referenceAllele": "C",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "NM_006612.5:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006603.2:p.Arg731Ter",
        "hgvsWellDefined": "NP_006603.2:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "XM_005256424.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256481.1:p.Arg731Ter",
        "hgvsWellDefined": "XP_005256481.1:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "XM_005256424.2:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256481.1:p.Arg731Ter",
        "hgvsWellDefined": "XP_005256481.1:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150724",
      "coordinates": [
        {
          "allele": "T",
          "end": 2546,
          "referenceAllele": "C",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "NM_006612.6:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006603.2:p.Arg731Ter",
        "hgvsWellDefined": "NP_006603.2:p.Arg733_Val1103delinsLeuGlnGlyLysAspProArgTrpAlaThrMetAlaAspLeuLysMetGlnAlaValLysGluIleCysTyrGluValAlaLeuAlaAspPheArgHisGlyArgAlaGluIleGluAlaLeuAlaAlaLeuLysMetArgGluLeuCysArgThrTyrGlyLysProAspGlyProGlyAspAlaTrpArgAlaValAlaArgAspValTrpAspThrValGlyGluGluGluGlyGlyGlyAlaGlySerGlyGlyGlySerGluGluGlyAlaArgGlyAlaGluValGluAspLeuArgAlaHisIleAspLysLeuThrGlyIleLeuGlnGluValLysLeuGlnAsnSerSerLysAspArgGluLeuGlnAlaLeuArgAspArgMetLeuArgMetGluArgValIleProLeuAlaGlnAspHisGluAspGluAsnGluGluGlyGlyGluValProTrpAlaProProGluGlySerGluAlaAlaGluGluAlaAlaProSerAspArgMetProSerAlaArgProProSerProProLeuSerSerTrpGluArgValSerArgLeuMetGluGluAspProAlaPheArgArgGlyArgLeuArgTrpLeuLysGlnGluGlnLeuArgLeuGlnGlyLeuGlnGlySerGlyGlyArgGlyGlyGlyLeuArgArgProProAlaArgPheValProProHisAspCysLysLeuArgPheProPheLysSerAsnProGlnHisArgGluSerTrpProGlyMetGlySerGlyGluAlaProThrProLeuGlnProProGluGluValThrProHisProAlaThrProAlaArgArgProProSerProArgArgSerHisHisProArgArgAsnSerLeuAspGlyGlyGlyArgSerArgGlyAlaGlySerAlaGlnProGluProGlnHisPheGlnProLysLysHisAsnSerTyrProGlnProProGlnProTyrProAlaGlnArgProProGlyProArgTyrProProTyrThrThrProProArgMetArgArgGlnArgSerAlaProAspLeuLysGluSerGlyAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320785.10:c.2191C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006612.6:c.2191C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320821.5:p.Arg731Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006603.2:p.Arg731Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}