{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8372145",
  "communityStandardTitle": [
    "NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=928649[alleleid]",
        "alleleId": 928649,
        "preferredName": "NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/948800",
        "RCV": [
          "RCV001220129",
          "RCV002562498"
        ],
        "variationId": 948800
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-8135432-G-C",
        "id": "17-8135432-G-C",
        "variant": "17:8135432 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8135432G>C?assembly=hg19",
        "id": "chr17:g.8135432G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8232114G>C?assembly=hg38",
        "id": "chr17:g.8232114G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371046424",
        "rs": 371046424
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8135432-G-C?dataset=gnomad_r2_1",
        "id": "17-8135432-G-C",
        "variant": "17:8135432 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8232114-G-C?dataset=gnomad_r3",
        "id": "17-8232114-G-C",
        "variant": "17:8232114 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8232114-G-C?dataset=gnomad_r4",
        "id": "17-8232114-G-C",
        "variant": "17:8232114 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8232114,
          "referenceAllele": "G",
          "start": 8232113
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8232114G>C",
        "CM000679.2:g.8232114G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8135432,
          "referenceAllele": "G",
          "start": 8135431
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8135432G>C",
        "CM000679.1:g.8135432G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8076157,
          "referenceAllele": "G",
          "start": 8076156
        }
      ],
      "hgvs": [
        "NC_000017.9:g.8076157G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20982,
          "referenceAllele": "C",
          "start": 20981
        }
      ],
      "hgvs": [
        "NG_032148.1:g.20982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20982,
          "referenceAllele": "C",
          "start": 20981
        }
      ],
      "hgvs": [
        "NG_032148.2:g.20982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616334"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000580299.2:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462607.2:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000462607.2:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581729.2:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462720.2:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000462720.2:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581967.2:n.2626C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000583254.2:n.2880C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699849.1:c.1277C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514647.1:p.Pro426Arg",
        "hgvsWellDefined": "ENSP00000514647.1:p.Pro426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699850.1:n.1437C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699851.1:n.2196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2720,
          "referenceAllele": "C",
          "start": 2719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699852.1:c.*850C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514648.1:n.*850C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699853.1:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514649.1:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000514649.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699854.1:n.1967C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699855.1:n.2626C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699856.1:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514650.1:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000514650.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699857.1:n.2182C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699858.1:c.*787C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514651.1:n.*787C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699859.1:c.2045C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514652.1:p.Pro682Arg",
        "hgvsWellDefined": "ENSP00000514652.1:p.Pro682Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699860.1:n.280C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "C",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699861.1:n.2196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699862.1:n.3134C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.7:c.2069C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Pro690Arg",
        "hgvsWellDefined": "ENSP00000396018.2:p.Pro690Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2163,
          "referenceAllele": "C",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.2:n.2163C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "C",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000643543.1:c.*881C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494323.1:n.*881C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "C",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000651323.1:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498499.1:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000498499.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2174C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2174C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Pro725Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Pro725Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000315684.12:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313759.8:p.Pro725Arg",
        "hgvsWellDefined": "ENSP00000313759.8:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.6:c.2069C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Pro690Arg",
        "hgvsWellDefined": "ENSP00000396018.2:p.Pro690Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578240.1:n.402C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578537.1:c.70C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755044",
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "referenceAllele": "C",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Pro725Arg",
        "hgvsWellDefined": "NP_079375.3:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.2128C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.2045C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Pro682Arg",
        "hgvsWellDefined": "XP_006721640.1:p.Pro682Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.2:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Pro725Arg",
        "hgvsWellDefined": "XP_006721641.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721579.2:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:p.Pro725Arg",
        "hgvsWellDefined": "XP_006721642.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.2069C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Pro690Arg",
        "hgvsWellDefined": "XP_011522312.1:p.Pro690Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.1277C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Pro426Arg",
        "hgvsWellDefined": "XP_011522313.1:p.Pro426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755044",
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "C",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Pro725Arg",
        "hgvsWellDefined": "NP_079375.3:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2174C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2174C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Pro725Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Pro725Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.2045C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Pro682Arg",
        "hgvsWellDefined": "XP_006721640.1:p.Pro682Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.2174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Pro725Arg",
        "hgvsWellDefined": "XP_006721641.1:p.Pro725Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.2069C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Pro690Arg",
        "hgvsWellDefined": "XP_011522312.1:p.Pro690Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.1277C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Pro426Arg",
        "hgvsWellDefined": "XP_011522313.1:p.Pro426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752639.1:n.2088C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752640.1:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752641.1:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752642.1:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2647,
          "referenceAllele": "C",
          "start": 2646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752643.1:n.2647C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_002958073.1:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.3:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.3:n.2217C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2089,
          "referenceAllele": "C",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.2:n.2089C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702498"
    }
  ],
  "type": "nucleotide"
}