{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338943512",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4751144",
        "active": true,
        "id": "COSM4751144"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2671330[alleleid]",
        "alleleId": 2671330,
        "preferredName": "NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506375",
        "RCV": [
          "RCV003234962"
        ],
        "variationId": 2506375
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22183876C>T?assembly=hg19",
        "id": "chr1:g.22183876C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21857383C>T?assembly=hg38",
        "id": "chr1:g.21857383C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1239294172",
        "rs": 1239294172
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22183876-C-T?dataset=gnomad_r2_1",
        "id": "1-22183876-C-T",
        "variant": "1:22183876 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21857383-C-T?dataset=gnomad_r4",
        "id": "1-21857383-C-T",
        "variant": "1:21857383 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21857383,
          "referenceAllele": "C",
          "start": 21857382
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21857383C>T",
        "CM000663.2:g.21857383C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22183876,
          "referenceAllele": "C",
          "start": 22183875
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22183876C>T",
        "CM000663.1:g.22183876C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22056463,
          "referenceAllele": "C",
          "start": 22056462
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22056463C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84875,
          "referenceAllele": "G",
          "start": 84874
        }
      ],
      "hgvs": [
        "NG_016740.1:g.84875G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1766Thr",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1766Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.5296G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.5296G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1766Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1766Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5376,
          "referenceAllele": "G",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1766Thr",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1766Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741851818",
      "coordinates": [
        {
          "allele": "A",
          "end": 5379,
          "referenceAllele": "G",
          "start": 5378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1767Thr",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1767Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594922",
      "coordinates": [
        {
          "allele": "A",
          "end": 5376,
          "referenceAllele": "G",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1766Thr",
        "hgvsWellDefined": "NP_005520.4:p.Ala1766Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5857,
          "referenceAllele": "G",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.5842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala1948Thr",
        "hgvsWellDefined": "XP_006710657.1:p.Ala1948Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5809,
          "referenceAllele": "G",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.5794G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala1932Thr",
        "hgvsWellDefined": "XP_006710658.1:p.Ala1932Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5788,
          "referenceAllele": "G",
          "start": 5787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.5773G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala1925Thr",
        "hgvsWellDefined": "XP_006710659.1:p.Ala1925Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5311,
          "referenceAllele": "G",
          "start": 5310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala1766Thr",
        "hgvsWellDefined": "XP_006710660.1:p.Ala1766Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539619.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539621.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539622.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5365,
          "referenceAllele": "G",
          "start": 5364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala1784Thr",
        "hgvsWellDefined": "XP_011539623.1:p.Ala1784Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5868,
          "referenceAllele": "G",
          "start": 5867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539624.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.5845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1949Thr",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5506,
          "referenceAllele": "G",
          "start": 5505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.5491G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala1831Thr",
        "hgvsWellDefined": "XP_016856609.1:p.Ala1831Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5455,
          "referenceAllele": "G",
          "start": 5454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.5440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala1814Thr",
        "hgvsWellDefined": "XP_016856610.1:p.Ala1814Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5452,
          "referenceAllele": "G",
          "start": 5451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.5437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala1813Thr",
        "hgvsWellDefined": "XP_016856611.1:p.Ala1813Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594922",
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1766Thr",
        "hgvsWellDefined": "NP_005520.4:p.Ala1766Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.5296G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.5296G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1766Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1766Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741851818",
      "coordinates": [
        {
          "allele": "A",
          "end": 5392,
          "referenceAllele": "G",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1767Thr",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1767Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}