{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210461",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204609[alleleid]",
        "alleleId": 204609,
        "preferredName": "NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208389",
        "RCV": [
          "RCV000202344",
          "RCV000284010",
          "RCV000336696"
        ],
        "variationId": 208389
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22192291-G-A",
        "id": "1-22192291-G-A",
        "variant": "1:22192291 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22192291G>A?assembly=hg19",
        "id": "chr1:g.22192291G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21865798G>A?assembly=hg38",
        "id": "chr1:g.21865798G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745452577",
        "rs": 745452577
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22192291-G-A?dataset=gnomad_r2_1",
        "id": "1-22192291-G-A",
        "variant": "1:22192291 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21865798-G-A?dataset=gnomad_r3",
        "id": "1-21865798-G-A",
        "variant": "1:21865798 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21865798-G-A?dataset=gnomad_r4",
        "id": "1-21865798-G-A",
        "variant": "1:21865798 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21865798,
          "referenceAllele": "G",
          "start": 21865797
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21865798G>A",
        "CM000663.2:g.21865798G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22192291,
          "referenceAllele": "G",
          "start": 22192290
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22192291G>A",
        "CM000663.1:g.22192291G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22064878,
          "referenceAllele": "G",
          "start": 22064877
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22064878G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76460,
          "referenceAllele": "C",
          "start": 76459
        }
      ],
      "hgvs": [
        "NG_016740.1:g.76460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4326,
          "referenceAllele": "C",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.4233C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Tyr1411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.4233C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.4233C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Tyr1411="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Tyr1411="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000644714.1:c.627C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496473.1:p.Tyr209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4313,
          "referenceAllele": "C",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.4233C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Tyr1411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810935",
      "coordinates": [
        {
          "allele": "T",
          "end": 4316,
          "referenceAllele": "C",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.4236C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Tyr1412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594712",
      "coordinates": [
        {
          "allele": "T",
          "end": 4313,
          "referenceAllele": "C",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.4233C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Tyr1411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4794,
          "referenceAllele": "C",
          "start": 4793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.4779C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Tyr1593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4746,
          "referenceAllele": "C",
          "start": 4745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.4731C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Tyr1577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4725,
          "referenceAllele": "C",
          "start": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.4710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Tyr1570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4248,
          "referenceAllele": "C",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.4233C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Tyr1411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4302,
          "referenceAllele": "C",
          "start": 4301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.4287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Tyr1429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4805,
          "referenceAllele": "C",
          "start": 4804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.4782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Tyr1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4443,
          "referenceAllele": "C",
          "start": 4442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.4428C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Tyr1476="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4392,
          "referenceAllele": "C",
          "start": 4391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.4377C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Tyr1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4389,
          "referenceAllele": "C",
          "start": 4388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.4374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Tyr1458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594712",
      "coordinates": [
        {
          "allele": "T",
          "end": 4326,
          "referenceAllele": "C",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.4233C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Tyr1411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.4233C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.4233C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Tyr1411="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Tyr1411="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810935",
      "coordinates": [
        {
          "allele": "T",
          "end": 4329,
          "referenceAllele": "C",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.4236C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Tyr1412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}