{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212266200",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.682A>G (p.Ile228Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525121[alleleid]",
        "alleleId": 525121,
        "preferredName": "NM_016169.4(SUFU):c.682A>G (p.Ile228Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524671",
        "RCV": [
          "RCV000628515",
          "RCV001025695"
        ],
        "variationId": 524671
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104353477A>G?assembly=hg19",
        "id": "chr10:g.104353477A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102593720A>G?assembly=hg38",
        "id": "chr10:g.102593720A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/555976050",
        "rs": 555976050
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104353477-A-G?dataset=gnomad_r2_1",
        "id": "10-104353477-A-G",
        "variant": "10:104353477 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102593720-A-G?dataset=gnomad_r3",
        "id": "10-102593720-A-G",
        "variant": "10:102593720 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102593720-A-G?dataset=gnomad_r4",
        "id": "10-102593720-A-G",
        "variant": "10:102593720 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 102593720,
          "referenceAllele": "A",
          "start": 102593719
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102593720A>G",
        "CM000672.2:g.102593720A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104353477,
          "referenceAllele": "A",
          "start": 104353476
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104353477A>G",
        "CM000672.1:g.104353477A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104343467,
          "referenceAllele": "A",
          "start": 104343466
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104343467A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94759,
          "referenceAllele": "A",
          "start": 94758
        }
      ],
      "hgvs": [
        "NG_021338.1:g.94759A>G",
        "LRG_521:g.94759A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:p.Ile228Val",
        "hgvsWellDefined": "ENSP00000358918.4:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.682A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.682A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Ile228Val"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Ile228Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "A",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:p.Ile228Val",
        "hgvsWellDefined": "ENSP00000358915.2:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:p.Ile228Val",
        "hgvsWellDefined": "ENSP00000358918.3:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:p.Ile228Val",
        "hgvsWellDefined": "ENSP00000411597.2:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000471000.1:n.464A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141026",
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Ile228Val",
        "hgvsWellDefined": "NP_001171604.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814429",
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.682A>G",
        "LRG_521t1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Ile228Val",
        "hgvsWellDefined": "NP_057253.2:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538160.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538161.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538162.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538163.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "A",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.604A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:p.Ile202Val",
        "hgvsWellDefined": "XP_011538164.1:p.Ile202Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "A",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.508A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Ile170Val",
        "hgvsWellDefined": "XP_011538165.1:p.Ile170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538166.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538160.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538162.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538163.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.508A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Ile170Val",
        "hgvsWellDefined": "XP_011538165.1:p.Ile170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Ile228Val",
        "hgvsWellDefined": "XP_011538166.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.604A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Ile202Val",
        "hgvsWellDefined": "XP_016871812.1:p.Ile202Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141026",
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Ile228Val",
        "hgvsWellDefined": "NP_001171604.1:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814429",
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.682A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Ile228Val",
        "hgvsWellDefined": "NP_057253.2:p.Ile228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.682A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.682A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Ile228Val"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Ile228Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}