{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8808810",
  "communityStandardTitle": [
    "NM_001159773.2(CANT1):c.147C>T (p.Phe49=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4580194"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=756192[alleleid]",
        "alleleId": 756192,
        "preferredName": "NM_001159773.2(CANT1):c.147C>T (p.Phe49=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/747885",
        "RCV": [
          "RCV000924641",
          "RCV001124685"
        ],
        "variationId": 747885
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-76993558-G-A",
        "id": "17-76993558-G-A",
        "variant": "17:76993558 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76993558G>A?assembly=hg19",
        "id": "chr17:g.76993558G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78997476G>A?assembly=hg38",
        "id": "chr17:g.78997476G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371500993",
        "rs": 371500993
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-76993558-G-A?dataset=gnomad_r2_1",
        "id": "17-76993558-G-A",
        "variant": "17:76993558 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78997476-G-A?dataset=gnomad_r3",
        "id": "17-78997476-G-A",
        "variant": "17:78997476 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78997476-G-A?dataset=gnomad_r4",
        "id": "17-78997476-G-A",
        "variant": "17:78997476 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78997476,
          "referenceAllele": "G",
          "start": 78997475
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78997476G>A",
        "CM000679.2:g.78997476G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 76993558,
          "referenceAllele": "G",
          "start": 76993557
        }
      ],
      "hgvs": [
        "NC_000017.10:g.76993558G>A",
        "CM000679.1:g.76993558G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74505153,
          "referenceAllele": "G",
          "start": 74505152
        }
      ],
      "hgvs": [
        "NC_000017.9:g.74505153G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17342,
          "referenceAllele": "C",
          "start": 17341
        }
      ],
      "hgvs": [
        "NG_016645.1:g.17342C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003243"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.10:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.147C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.147C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Phe49="
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Phe49="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000302345.6:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307674.2:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000392446.9:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376241.4:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000586916.6:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467970.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000588075.5:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465769.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 676,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000588611.5:c.132+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465816.1:n.132+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000590370.5:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466637.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000591773.5:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467437.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000592228.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466743.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "ENST00000620915.4:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477798.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935222",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935474",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830265668",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.3:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257020.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257077.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257021.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257078.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_005257022.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257079.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_006721683.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721746.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524291.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522593.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524292.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522594.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524293.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522595.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524294.2:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522596.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_011524295.2:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522597.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XM_024450564.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306332.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "XR_001752424.2:n.591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935474",
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159773.2:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153245.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392446.10:c.147C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001159773.2:c.147C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376241.4:p.Phe49="
          },
          "RefSeq": {
            "hgvs": "NP_001153245.1:p.Phe49="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825935222",
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_001159772.2:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153244.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830265668",
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NM_138793.4:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620148.1:p.Phe49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699793"
    }
  ],
  "type": "nucleotide"
}