{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA669503",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3934499",
        "active": true,
        "id": "COSM3934499"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587066[alleleid]",
        "alleleId": 587066,
        "preferredName": "NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596005",
        "RCV": [
          "RCV000731706",
          "RCV001101520",
          "RCV001101519",
          "RCV002485898"
        ],
        "variationId": 596005
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22155370-C-T",
        "id": "1-22155370-C-T",
        "variant": "1:22155370 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22155370C>T?assembly=hg19",
        "id": "chr1:g.22155370C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21828877C>T?assembly=hg38",
        "id": "chr1:g.21828877C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/573932867",
        "rs": 573932867
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22155370-C-T?dataset=gnomad_r2_1",
        "id": "1-22155370-C-T",
        "variant": "1:22155370 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21828877-C-T?dataset=gnomad_r3",
        "id": "1-21828877-C-T",
        "variant": "1:21828877 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21828877-C-T?dataset=gnomad_r4",
        "id": "1-21828877-C-T",
        "variant": "1:21828877 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21828877,
          "referenceAllele": "C",
          "start": 21828876
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21828877C>T",
        "CM000663.2:g.21828877C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22155370,
          "referenceAllele": "C",
          "start": 22155369
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22155370C>T",
        "CM000663.1:g.22155370C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22027957,
          "referenceAllele": "C",
          "start": 22027956
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22027957C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113381,
          "referenceAllele": "G",
          "start": 113380
        }
      ],
      "hgvs": [
        "NG_016740.1:g.113381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12288,
          "referenceAllele": "G",
          "start": 12287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.12195G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Pro4065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.12195G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.12195G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Pro4065="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Pro4065="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12275,
          "referenceAllele": "G",
          "start": 12274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.12195G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Pro4065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000486901.1:n.1534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811383",
      "coordinates": [
        {
          "allele": "A",
          "end": 12278,
          "referenceAllele": "G",
          "start": 12277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.12198G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Pro4066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596366",
      "coordinates": [
        {
          "allele": "A",
          "end": 12275,
          "referenceAllele": "G",
          "start": 12274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.12195G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Pro4065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12774,
          "referenceAllele": "G",
          "start": 12773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.12759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Pro4253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12726,
          "referenceAllele": "G",
          "start": 12725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.12711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Pro4237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12705,
          "referenceAllele": "G",
          "start": 12704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.12690G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Pro4230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12228,
          "referenceAllele": "G",
          "start": 12227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.12213G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Pro4071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12777,
          "referenceAllele": "G",
          "start": 12776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.12762G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Pro4254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12759,
          "referenceAllele": "G",
          "start": 12758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.12744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Pro4248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12777,
          "referenceAllele": "G",
          "start": 12776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.12762G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Pro4254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12498,
          "referenceAllele": "G",
          "start": 12497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.12483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Pro4161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12282,
          "referenceAllele": "G",
          "start": 12281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.12267G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Pro4089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12759,
          "referenceAllele": "G",
          "start": 12758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.12744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Pro4248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12405,
          "referenceAllele": "G",
          "start": 12404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.12390G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Pro4130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12354,
          "referenceAllele": "G",
          "start": 12353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.12339G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Pro4113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12351,
          "referenceAllele": "G",
          "start": 12350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.12336G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Pro4112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596366",
      "coordinates": [
        {
          "allele": "A",
          "end": 12288,
          "referenceAllele": "G",
          "start": 12287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.12195G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Pro4065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.12195G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.12195G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Pro4065="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Pro4065="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811383",
      "coordinates": [
        {
          "allele": "A",
          "end": 12291,
          "referenceAllele": "G",
          "start": 12290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.12198G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Pro4066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}