{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8808625",
  "communityStandardTitle": [
    "NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445906[alleleid]",
        "alleleId": 445906,
        "preferredName": "NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452497",
        "RCV": [
          "RCV000520404",
          "RCV002250651"
        ],
        "variationId": 452497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-76991201-G-A",
        "id": "17-76991201-G-A",
        "variant": "17:76991201 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76991201G>A?assembly=hg19",
        "id": "chr17:g.76991201G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78995119G>A?assembly=hg38",
        "id": "chr17:g.78995119G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761853610",
        "rs": 761853610
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-76991201-G-A?dataset=gnomad_r2_1",
        "id": "17-76991201-G-A",
        "variant": "17:76991201 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78995119-G-A?dataset=gnomad_r3",
        "id": "17-78995119-G-A",
        "variant": "17:78995119 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78995119-G-A?dataset=gnomad_r4",
        "id": "17-78995119-G-A",
        "variant": "17:78995119 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78995119,
          "referenceAllele": "G",
          "start": 78995118
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78995119G>A",
        "CM000679.2:g.78995119G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 76991201,
          "referenceAllele": "G",
          "start": 76991200
        }
      ],
      "hgvs": [
        "NC_000017.10:g.76991201G>A",
        "CM000679.1:g.76991201G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74502796,
          "referenceAllele": "G",
          "start": 74502795
        }
      ],
      "hgvs": [
        "NC_000017.9:g.74502796G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19699,
          "referenceAllele": "C",
          "start": 19698
        }
      ],
      "hgvs": [
        "NG_016645.1:g.19699C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003243"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.10:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Pro245Leu",
        "hgvsWellDefined": "ENSP00000376241.4:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.734C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.734C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Pro245Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Pro245Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000302345.6:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307674.2:p.Pro245Leu",
        "hgvsWellDefined": "ENSP00000307674.2:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.9:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Pro245Leu",
        "hgvsWellDefined": "ENSP00000376241.4:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000588096.1:n.131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000591773.5:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467437.1:p.Pro245Leu",
        "hgvsWellDefined": "ENSP00000467437.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 1857,
          "referenceAllele": "C",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000592228.1:c.647+1857C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466743.1:n.647+1857C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000620915.4:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477798.1:p.Pro245Leu",
        "hgvsWellDefined": "ENSP00000477798.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935335",
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_001153244.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935593",
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_001153245.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660102",
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.3:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_620148.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1376,
          "referenceAllele": "C",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257020.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257077.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_005257077.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257021.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257078.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_005257078.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257022.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257079.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_005257079.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_006721683.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721746.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_006721746.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524291.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522593.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522593.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524292.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522594.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522594.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524293.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522595.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522595.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522596.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522597.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.2:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522596.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.2:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_011522597.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_024450564.1:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306332.1:p.Pro245Leu",
        "hgvsWellDefined": "XP_024306332.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XR_001752424.2:n.1178C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935593",
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.2:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_001153245.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.734C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.734C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Pro245Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Pro245Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935335",
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.2:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_001153244.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660102",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.4:c.734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Pro245Leu",
        "hgvsWellDefined": "NP_620148.1:p.Pro245Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699793"
    }
  ],
  "type": "nucleotide"
}