{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1980651713",
  "communityStandardTitle": [
    "NM_002335.4(LRP5):c.1708C= (p.Arg570=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908665",
        "rs": 121908665
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68403606,
          "referenceAllele": "C",
          "start": 68403605
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68403606C=",
        "CM000673.2:g.68403606C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68171074,
          "referenceAllele": "C",
          "start": 68171073
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68171074C=",
        "CM000673.1:g.68171074C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 67927650,
          "referenceAllele": "C",
          "start": 67927649
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67927650C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95967,
          "referenceAllele": "C",
          "start": 95966
        }
      ],
      "hgvs": [
        "NG_015835.1:g.95967C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95967,
          "referenceAllele": "C",
          "start": 95966
        }
      ],
      "hgvs": [
        "NG_015835.2:g.95967C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.12:c.1708C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.1708C="
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.1708C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Arg570="
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Arg570="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "C",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.11:c.1708C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000529993.5:c.*120C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436652.1:n.*120C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.1:c.-230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:n.-230C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709375",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "C",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.3:c.1708C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_005273994.2:c.1708C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274051.1:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545029.1:c.1735C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543331.1:p.Arg579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545030.1:c.1735C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543332.1:p.Arg579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545031.1:c.1735C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543333.1:p.Arg579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.1:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.1:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_001747874.1:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.2:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.2:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709375",
      "coordinates": [
        {
          "allele": "C",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.4:c.1708C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665471",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.1708C="
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.1708C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Arg570="
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Arg570="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.2:c.-230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:n.-230C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682899"
    }
  ],
  "type": "nucleotide"
}