{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5667904",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM292469"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=475248[alleleid]",
        "alleleId": 475248,
        "preferredName": "NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486528",
        "RCV": [
          "RCV000568227",
          "RCV000763643",
          "RCV000705071",
          "RCV003459402"
        ],
        "variationId": 486528
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-104377121-C-T",
        "id": "10-104377121-C-T",
        "variant": "10:104377121 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104377121C>T?assembly=hg19",
        "id": "chr10:g.104377121C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102617364C>T?assembly=hg38",
        "id": "chr10:g.102617364C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368020224",
        "rs": 368020224
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104377121-C-T?dataset=gnomad_r2_1",
        "id": "10-104377121-C-T",
        "variant": "10:104377121 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102617364-C-T?dataset=gnomad_r3",
        "id": "10-102617364-C-T",
        "variant": "10:102617364 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102617364-C-T?dataset=gnomad_r4",
        "id": "10-102617364-C-T",
        "variant": "10:102617364 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102617364,
          "referenceAllele": "C",
          "start": 102617363
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102617364C>T",
        "CM000672.2:g.102617364C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104377121,
          "referenceAllele": "C",
          "start": 104377120
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104377121C>T",
        "CM000672.1:g.104377121C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104367111,
          "referenceAllele": "C",
          "start": 104367110
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104367111C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118403,
          "referenceAllele": "C",
          "start": 118402
        }
      ],
      "hgvs": [
        "NG_021338.1:g.118403C>T",
        "LRG_521:g.118403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:p.Thr411Met",
        "hgvsWellDefined": "ENSP00000358918.4:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Thr411Met"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Thr411Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:p.Thr411Met",
        "hgvsWellDefined": "ENSP00000358915.2:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:p.Thr411Met",
        "hgvsWellDefined": "ENSP00000358918.3:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:p.Thr411Met",
        "hgvsWellDefined": "ENSP00000411597.2:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Thr411Met",
        "hgvsWellDefined": "NP_001171604.1:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.1232C>T",
        "LRG_521t1:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Thr411Met",
        "hgvsWellDefined": "NP_057253.2:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538160.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538161.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Thr411Met",
        "hgvsWellDefined": "XP_011538162.1:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538163.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.1157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:p.Thr386Met",
        "hgvsWellDefined": "XP_011538164.1:p.Thr386Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Thr354Met",
        "hgvsWellDefined": "XP_011538165.1:p.Thr354Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538166.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538160.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Thr411Met",
        "hgvsWellDefined": "XP_011538162.1:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538163.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Thr354Met",
        "hgvsWellDefined": "XP_011538165.1:p.Thr354Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Thr412Met",
        "hgvsWellDefined": "XP_011538166.1:p.Thr412Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.1157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Thr386Met",
        "hgvsWellDefined": "XP_016871812.1:p.Thr386Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Thr411Met",
        "hgvsWellDefined": "NP_001171604.1:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Thr411Met",
        "hgvsWellDefined": "NP_057253.2:p.Thr411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Thr411Met"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Thr411Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}