{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1969150755",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.479G= (p.Cys160=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607221",
        "rs": 267607221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46899455,
          "referenceAllele": "C",
          "start": 46899454
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46899455C=",
        "CM000673.2:g.46899455C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46921006,
          "referenceAllele": "C",
          "start": 46921005
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46921006C=",
        "CM000673.1:g.46921006C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 46877582,
          "referenceAllele": "C",
          "start": 46877581
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46877582C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24168,
          "referenceAllele": "G",
          "start": 24167
        }
      ],
      "hgvs": [
        "NG_021394.1:g.24168G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.479G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Cys160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.479G="
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.479G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Cys160="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Cys160="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.479G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Cys160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000534404.1:c.332G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434763.1:p.Cys111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077798444",
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.479G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Cys160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Cys231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.479G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Cys160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077798444",
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.479G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Cys160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.479G="
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.479G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Cys160="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Cys160="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}