{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5969206",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326853[alleleid]",
        "alleleId": 326853,
        "preferredName": "NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304852",
        "RCV": [
          "RCV000875312",
          "RCV000401700"
        ],
        "variationId": 304852
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-46890179-G-A",
        "id": "11-46890179-G-A",
        "variant": "11:46890179 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46890179G>A?assembly=hg19",
        "id": "chr11:g.46890179G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46868628G>A?assembly=hg38",
        "id": "chr11:g.46868628G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150734530",
        "rs": 150734530
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46890179-G-A?dataset=gnomad_r2_1",
        "id": "11-46890179-G-A",
        "variant": "11:46890179 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46868628-G-A?dataset=gnomad_r3",
        "id": "11-46868628-G-A",
        "variant": "11:46868628 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46868628-G-A?dataset=gnomad_r4",
        "id": "11-46868628-G-A",
        "variant": "11:46868628 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46868628,
          "referenceAllele": "G",
          "start": 46868627
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46868628G>A",
        "CM000673.2:g.46868628G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46890179,
          "referenceAllele": "G",
          "start": 46890178
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46890179G>A",
        "CM000673.1:g.46890179G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46846755,
          "referenceAllele": "G",
          "start": 46846754
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46846755G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54995,
          "referenceAllele": "C",
          "start": 54994
        }
      ],
      "hgvs": [
        "NG_021394.1:g.54995C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5094,
          "referenceAllele": "C",
          "start": 5093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.4923C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Asp1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.4923C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.4923C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Asp1641="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Asp1641="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.4923C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Asp1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829377070",
      "coordinates": [
        {
          "allele": "T",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.4923C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Asp1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "endIntronDirection": "-",
          "endIntronOffset": 4445,
          "referenceAllele": "G",
          "start": 197,
          "startIntronDirection": "-",
          "startIntronOffset": 4446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044128",
      "geneNCBI_id": 100507401,
      "geneSymbol": "LRP4-AS1",
      "hgvs": [
        "NR_038909.1:n.198-4446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5151,
          "referenceAllele": "C",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.5136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Asp1712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4224,
          "referenceAllele": "C",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.4119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Asp1373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2703,
          "referenceAllele": "C",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.1:c.2688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Asp896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4236,
          "referenceAllele": "C",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.4119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Asp1373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2703,
          "referenceAllele": "C",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.2:c.2688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Asp896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5083,
          "referenceAllele": "C",
          "start": 5082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.4923C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Asp1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829377070",
      "coordinates": [
        {
          "allele": "T",
          "end": 5094,
          "referenceAllele": "C",
          "start": 5093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.4923C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Asp1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.4923C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.4923C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Asp1641="
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Asp1641="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}