{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214715",
  "communityStandardTitle": [
    "NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3999123"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135995[alleleid]",
        "alleleId": 135995,
        "preferredName": "NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130549",
        "RCV": [
          "RCV000118589",
          "RCV001711206"
        ],
        "variationId": 130549
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-75884216-C-T",
        "id": "13-75884216-C-T",
        "variant": "13:75884216 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.75884216C>T?assembly=hg19",
        "id": "chr13:g.75884216C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.75310080C>T?assembly=hg38",
        "id": "chr13:g.75310080C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1062087",
        "rs": 1062087
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-75884216-C-T?dataset=gnomad_r2_1",
        "id": "13-75884216-C-T",
        "variant": "13:75884216 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-75310080-C-T?dataset=gnomad_r3",
        "id": "13-75310080-C-T",
        "variant": "13:75310080 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-75310080-C-T?dataset=gnomad_r4",
        "id": "13-75310080-C-T",
        "variant": "13:75310080 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 75310080,
          "referenceAllele": "C",
          "start": 75310079
        }
      ],
      "hgvs": [
        "NC_000013.11:g.75310080C>T",
        "CM000675.2:g.75310080C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 75884216,
          "referenceAllele": "C",
          "start": 75884215
        }
      ],
      "hgvs": [
        "NC_000013.10:g.75884216C>T",
        "CM000675.1:g.75884216C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 74782217,
          "referenceAllele": "C",
          "start": 74782216
        }
      ],
      "hgvs": [
        "NC_000013.9:g.74782217C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177089,
          "referenceAllele": "G",
          "start": 177088
        }
      ],
      "hgvs": [
        "NG_042850.1:g.177089G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006042"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377636.8:c.2455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366863.3:p.Val819Ile",
        "hgvsWellDefined": "ENSP00000366863.3:p.Val819Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377636.8:c.2455G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014832.5:c.2455G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366863.3:p.Val819Ile"
          },
          "RefSeq": {
            "hgvs": "NP_055647.2:p.Val819Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000648194.1:c.1723G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496983.1:p.Val575Ile",
        "hgvsWellDefined": "ENSP00000496983.1:p.Val575Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2613,
          "referenceAllele": "G",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377625.6:c.2266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366852.2:p.Val756Ile",
        "hgvsWellDefined": "ENSP00000366852.2:p.Val756Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377636.7:c.2455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366863.3:p.Val819Ile",
        "hgvsWellDefined": "ENSP00000366863.3:p.Val819Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000413735.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396932.1:p.Val268Ile",
        "hgvsWellDefined": "ENSP00000396932.1:p.Val268Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2778,
          "referenceAllele": "G",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000431480.6:c.2431G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395986.2:p.Val811Ile",
        "hgvsWellDefined": "ENSP00000395986.2:p.Val811Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000493487.1:n.314G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826728464",
      "coordinates": [
        {
          "allele": "A",
          "end": 2778,
          "referenceAllele": "G",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286658.1:c.2431G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273587.1:p.Val811Ile",
        "hgvsWellDefined": "NP_001273587.1:p.Val811Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826728464",
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "referenceAllele": "G",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286658.2:c.2431G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273587.1:p.Val811Ile",
        "hgvsWellDefined": "NP_001273587.1:p.Val811Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826728547",
      "coordinates": [
        {
          "allele": "A",
          "end": 2613,
          "referenceAllele": "G",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286659.1:c.2266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273588.1:p.Val756Ile",
        "hgvsWellDefined": "NP_001273588.1:p.Val756Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826728547",
      "coordinates": [
        {
          "allele": "A",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286659.2:c.2266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273588.1:p.Val756Ile",
        "hgvsWellDefined": "NP_001273588.1:p.Val756Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214716",
      "coordinates": [
        {
          "allele": "A",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.3:c.2455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819Ile",
        "hgvsWellDefined": "NP_055647.2:p.Val819Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214716",
      "coordinates": [
        {
          "allele": "A",
          "end": 2856,
          "referenceAllele": "G",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.4:c.2455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819Ile",
        "hgvsWellDefined": "NP_055647.2:p.Val819Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3259,
          "referenceAllele": "G",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266603.1:c.2380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266660.1:p.Val794Ile",
        "hgvsWellDefined": "XP_005266660.1:p.Val794Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266605.1:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266662.1:p.Val638Ile",
        "hgvsWellDefined": "XP_005266662.1:p.Val638Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_006719903.2:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719966.1:p.Val661Ile",
        "hgvsWellDefined": "XP_006719966.1:p.Val661Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_011535331.1:c.2344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533633.1:p.Val782Ile",
        "hgvsWellDefined": "XP_011533633.1:p.Val782Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3757,
          "referenceAllele": "G",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266603.2:c.2380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266660.1:p.Val794Ile",
        "hgvsWellDefined": "XP_005266660.1:p.Val794Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266605.3:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266662.1:p.Val638Ile",
        "hgvsWellDefined": "XP_005266662.1:p.Val638Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_006719903.3:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719966.1:p.Val661Ile",
        "hgvsWellDefined": "XP_006719966.1:p.Val661Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_011535331.2:c.2344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533633.1:p.Val782Ile",
        "hgvsWellDefined": "XP_011533633.1:p.Val782Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020882.2:c.1723G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876371.1:p.Val575Ile",
        "hgvsWellDefined": "XP_016876371.1:p.Val575Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020883.2:c.1612G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876372.1:p.Val538Ile",
        "hgvsWellDefined": "XP_016876372.1:p.Val538Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020884.2:c.22G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876373.1:p.Val8Ile",
        "hgvsWellDefined": "XP_016876373.1:p.Val8Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214716",
      "coordinates": [
        {
          "allele": "A",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.5:c.2455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819Ile",
        "hgvsWellDefined": "NP_055647.2:p.Val819Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697363",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377636.8:c.2455G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014832.5:c.2455G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366863.3:p.Val819Ile"
          },
          "RefSeq": {
            "hgvs": "NP_055647.2:p.Val819Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}