{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA672259",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280667[alleleid]",
        "alleleId": 280667,
        "preferredName": "NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295844",
        "RCV": [
          "RCV000331857",
          "RCV000365542",
          "RCV000907630",
          "RCV004537651"
        ],
        "variationId": 295844
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22191473-A-T",
        "id": "1-22191473-A-T",
        "variant": "1:22191473 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22191473A>T?assembly=hg19",
        "id": "chr1:g.22191473A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21864980A>T?assembly=hg38",
        "id": "chr1:g.21864980A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138460117",
        "rs": 138460117
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22191473-A-T?dataset=gnomad_r2_1",
        "id": "1-22191473-A-T",
        "variant": "1:22191473 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21864980-A-T?dataset=gnomad_r3",
        "id": "1-21864980-A-T",
        "variant": "1:21864980 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21864980-A-T?dataset=gnomad_r4",
        "id": "1-21864980-A-T",
        "variant": "1:21864980 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21864980,
          "referenceAllele": "A",
          "start": 21864979
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21864980A>T",
        "CM000663.2:g.21864980A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22191473,
          "referenceAllele": "A",
          "start": 22191472
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22191473A>T",
        "CM000663.1:g.22191473A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22064060,
          "referenceAllele": "A",
          "start": 22064059
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22064060A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77278,
          "referenceAllele": "T",
          "start": 77277
        }
      ],
      "hgvs": [
        "NG_016740.1:g.77278T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4582,
          "referenceAllele": "T",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.4489T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Phe1497Ile",
        "hgvsWellDefined": "ENSP00000363827.3:p.Phe1497Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.4489T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.4489T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Phe1497Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Phe1497Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4569,
          "referenceAllele": "T",
          "start": 4568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.4489T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Phe1497Ile",
        "hgvsWellDefined": "ENSP00000363827.3:p.Phe1497Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017965",
      "coordinates": [
        {
          "allele": "A",
          "end": 4572,
          "referenceAllele": "T",
          "start": 4571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.4492T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Phe1498Ile",
        "hgvsWellDefined": "NP_001278789.1:p.Phe1498Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396179",
      "coordinates": [
        {
          "allele": "A",
          "end": 4569,
          "referenceAllele": "T",
          "start": 4568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.4489T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Phe1497Ile",
        "hgvsWellDefined": "NP_005520.4:p.Phe1497Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5050,
          "referenceAllele": "T",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.5035T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Phe1679Ile",
        "hgvsWellDefined": "XP_006710657.1:p.Phe1679Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5002,
          "referenceAllele": "T",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.4987T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Phe1663Ile",
        "hgvsWellDefined": "XP_006710658.1:p.Phe1663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4981,
          "referenceAllele": "T",
          "start": 4980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.4966T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Phe1656Ile",
        "hgvsWellDefined": "XP_006710659.1:p.Phe1656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4504,
          "referenceAllele": "T",
          "start": 4503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.4489T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Phe1497Ile",
        "hgvsWellDefined": "XP_006710660.1:p.Phe1497Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539619.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539620.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539621.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539622.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4558,
          "referenceAllele": "T",
          "start": 4557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.4543T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Phe1515Ile",
        "hgvsWellDefined": "XP_011539623.1:p.Phe1515Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5061,
          "referenceAllele": "T",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539624.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.5038T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Phe1680Ile",
        "hgvsWellDefined": "XP_011539620.1:p.Phe1680Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4699,
          "referenceAllele": "T",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.4684T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Phe1562Ile",
        "hgvsWellDefined": "XP_016856609.1:p.Phe1562Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4648,
          "referenceAllele": "T",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.4633T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Phe1545Ile",
        "hgvsWellDefined": "XP_016856610.1:p.Phe1545Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4645,
          "referenceAllele": "T",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.4630T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Phe1544Ile",
        "hgvsWellDefined": "XP_016856611.1:p.Phe1544Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396179",
      "coordinates": [
        {
          "allele": "A",
          "end": 4582,
          "referenceAllele": "T",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.4489T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Phe1497Ile",
        "hgvsWellDefined": "NP_005520.4:p.Phe1497Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.4489T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.4489T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Phe1497Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Phe1497Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017965",
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "T",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.4492T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Phe1498Ile",
        "hgvsWellDefined": "NP_001278789.1:p.Phe1498Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}