{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8808732",
  "communityStandardTitle": [
    "NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330373[alleleid]",
        "alleleId": 330373,
        "preferredName": "NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325703",
        "RCV": [
          "RCV000365329",
          "RCV000729124",
          "RCV001516452",
          "RCV003957665"
        ],
        "variationId": 325703
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-76993272-C-A",
        "id": "17-76993272-C-A",
        "variant": "17:76993272 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76993272C>A?assembly=hg19",
        "id": "chr17:g.76993272C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78997190C>A?assembly=hg38",
        "id": "chr17:g.78997190C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140112462",
        "rs": 140112462
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-76993272-C-A?dataset=gnomad_r2_1",
        "id": "17-76993272-C-A",
        "variant": "17:76993272 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78997190-C-A?dataset=gnomad_r3",
        "id": "17-78997190-C-A",
        "variant": "17:78997190 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78997190-C-A?dataset=gnomad_r4",
        "id": "17-78997190-C-A",
        "variant": "17:78997190 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78997190,
          "referenceAllele": "C",
          "start": 78997189
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78997190C>A",
        "CM000679.2:g.78997190C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 76993272,
          "referenceAllele": "C",
          "start": 76993271
        }
      ],
      "hgvs": [
        "NC_000017.10:g.76993272C>A",
        "CM000679.1:g.76993272C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74504867,
          "referenceAllele": "C",
          "start": 74504866
        }
      ],
      "hgvs": [
        "NC_000017.9:g.74504867C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17628,
          "referenceAllele": "G",
          "start": 17627
        }
      ],
      "hgvs": [
        "NG_016645.1:g.17628G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003243"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.10:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000376241.4:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.433G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.433G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Val145Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Val145Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000302345.6:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307674.2:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000307674.2:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.9:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000376241.4:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000588611.5:c.272G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465816.1:p.Arg91Leu",
        "hgvsWellDefined": "ENSP00000465816.1:p.Arg91Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000591773.5:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467437.1:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000467437.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000592228.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466743.1:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000466743.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000620915.4:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477798.1:p.Val145Leu",
        "hgvsWellDefined": "ENSP00000477798.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935277",
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Val145Leu",
        "hgvsWellDefined": "NP_001153244.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935532",
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Val145Leu",
        "hgvsWellDefined": "NP_001153245.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645406240",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.3:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Val145Leu",
        "hgvsWellDefined": "NP_620148.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257020.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257077.1:p.Val145Leu",
        "hgvsWellDefined": "XP_005257077.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257021.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257078.1:p.Val145Leu",
        "hgvsWellDefined": "XP_005257078.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257022.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257079.1:p.Val145Leu",
        "hgvsWellDefined": "XP_005257079.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_006721683.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721746.1:p.Val145Leu",
        "hgvsWellDefined": "XP_006721746.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524291.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522593.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522593.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524292.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522594.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522594.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524293.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522595.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522595.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522596.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522597.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.2:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522596.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.2:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Val145Leu",
        "hgvsWellDefined": "XP_011522597.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_024450564.1:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306332.1:p.Val145Leu",
        "hgvsWellDefined": "XP_024306332.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XR_001752424.2:n.877G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935532",
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.2:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Val145Leu",
        "hgvsWellDefined": "NP_001153245.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.433G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.433G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Val145Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Val145Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935277",
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.2:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Val145Leu",
        "hgvsWellDefined": "NP_001153244.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645406240",
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.4:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Val145Leu",
        "hgvsWellDefined": "NP_620148.1:p.Val145Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699793"
    }
  ],
  "type": "nucleotide"
}