{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA670181",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=279067[alleleid]",
        "alleleId": 279067,
        "preferredName": "NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295740",
        "RCV": [
          "RCV000346554",
          "RCV000398416",
          "RCV001466975"
        ],
        "variationId": 295740
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22163378-G-A",
        "id": "1-22163378-G-A",
        "variant": "1:22163378 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22163378G>A?assembly=hg19",
        "id": "chr1:g.22163378G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21836885G>A?assembly=hg38",
        "id": "chr1:g.21836885G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762130127",
        "rs": 762130127
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21836885-G-A?dataset=gnomad_r3",
        "id": "1-21836885-G-A",
        "variant": "1:21836885 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21836885-G-A?dataset=gnomad_r4",
        "id": "1-21836885-G-A",
        "variant": "1:21836885 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21836885,
          "referenceAllele": "G",
          "start": 21836884
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21836885G>A",
        "CM000663.2:g.21836885G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22163378,
          "referenceAllele": "G",
          "start": 22163377
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22163378G>A",
        "CM000663.1:g.22163378G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22035965,
          "referenceAllele": "G",
          "start": 22035964
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22035965G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105373,
          "referenceAllele": "C",
          "start": 105372
        }
      ],
      "hgvs": [
        "NG_016740.1:g.105373C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10365,
          "referenceAllele": "C",
          "start": 10364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.10272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Pro3424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.10272C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.10272C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Pro3424="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Pro3424="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1247,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374676.4:c.183-1248C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10352,
          "referenceAllele": "C",
          "start": 10351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.10272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Pro3424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "C",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000471322.2:n.33C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811283",
      "coordinates": [
        {
          "allele": "T",
          "end": 10355,
          "referenceAllele": "C",
          "start": 10354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.10275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Pro3425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596029",
      "coordinates": [
        {
          "allele": "T",
          "end": 10352,
          "referenceAllele": "C",
          "start": 10351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.10272C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Pro3424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10833,
          "referenceAllele": "C",
          "start": 10832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.10818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Pro3606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10785,
          "referenceAllele": "C",
          "start": 10784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.10770C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Pro3590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10764,
          "referenceAllele": "C",
          "start": 10763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.10749C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Pro3583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10287,
          "referenceAllele": "C",
          "start": 10286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.10272C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Pro3424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10836,
          "referenceAllele": "C",
          "start": 10835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.10821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Pro3607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10836,
          "referenceAllele": "C",
          "start": 10835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.10821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Pro3607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10836,
          "referenceAllele": "C",
          "start": 10835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.10821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Pro3607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10557,
          "referenceAllele": "C",
          "start": 10556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.10542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Pro3514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10341,
          "referenceAllele": "C",
          "start": 10340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.10326C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Pro3442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10836,
          "referenceAllele": "C",
          "start": 10835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.10821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Pro3607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10482,
          "referenceAllele": "C",
          "start": 10481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.10467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Pro3489="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10431,
          "referenceAllele": "C",
          "start": 10430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.10416C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Pro3472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10428,
          "referenceAllele": "C",
          "start": 10427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.10413C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Pro3471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596029",
      "coordinates": [
        {
          "allele": "T",
          "end": 10365,
          "referenceAllele": "C",
          "start": 10364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.10272C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Pro3424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.10272C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.10272C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Pro3424="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Pro3424="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811283",
      "coordinates": [
        {
          "allele": "T",
          "end": 10368,
          "referenceAllele": "C",
          "start": 10367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.10275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Pro3425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}