{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210927",
  "communityStandardTitle": [
    "NM_002335.4(LRP5):c.1360G>A (p.Val454Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181391[alleleid]",
        "alleleId": 181391,
        "preferredName": "NM_002335.4(LRP5):c.1360G>A (p.Val454Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183258",
        "RCV": [
          "RCV000162092",
          "RCV000584798",
          "RCV002515121",
          "RCV002277318"
        ],
        "variationId": 183258
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68154128-G-A",
        "id": "11-68154128-G-A",
        "variant": "11:68154128 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68154128G>A?assembly=hg19",
        "id": "chr11:g.68154128G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68386660G>A?assembly=hg38",
        "id": "chr11:g.68386660G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373910016",
        "rs": 373910016
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68154128-G-A?dataset=gnomad_r2_1",
        "id": "11-68154128-G-A",
        "variant": "11:68154128 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68386660-G-A?dataset=gnomad_r3",
        "id": "11-68386660-G-A",
        "variant": "11:68386660 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68386660-G-A?dataset=gnomad_r4",
        "id": "11-68386660-G-A",
        "variant": "11:68386660 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68386660,
          "referenceAllele": "G",
          "start": 68386659
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68386660G>A",
        "CM000673.2:g.68386660G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68154128,
          "referenceAllele": "G",
          "start": 68154127
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68154128G>A",
        "CM000673.1:g.68154128G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 67910704,
          "referenceAllele": "G",
          "start": 67910703
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67910704G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79021,
          "referenceAllele": "G",
          "start": 79020
        }
      ],
      "hgvs": [
        "NG_015835.1:g.79021G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79021,
          "referenceAllele": "G",
          "start": 79020
        }
      ],
      "hgvs": [
        "NG_015835.2:g.79021G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "G",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.12:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Val454Met",
        "hgvsWellDefined": "ENSP00000294304.6:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.1360G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.1360G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Val454Met"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Val454Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.11:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Val454Met",
        "hgvsWellDefined": "ENSP00000294304.6:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000529993.5:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436652.1:p.Val454Met",
        "hgvsWellDefined": "ENSP00000436652.1:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.1:c.-406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:n.-406G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210928",
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.3:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Val454Met",
        "hgvsWellDefined": "NP_002326.2:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_005273994.2:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274051.1:p.Val454Met",
        "hgvsWellDefined": "XP_005274051.1:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545029.1:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543331.1:p.Val463Met",
        "hgvsWellDefined": "XP_011543331.1:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545030.1:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543332.1:p.Val463Met",
        "hgvsWellDefined": "XP_011543332.1:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545031.1:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543333.1:p.Val463Met",
        "hgvsWellDefined": "XP_011543333.1:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.1:n.1402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.1:n.1402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_001747874.1:n.1402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.2:n.1402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.2:n.1402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210928",
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "G",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.4:c.1360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Val454Met",
        "hgvsWellDefined": "NP_002326.2:p.Val454Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665471",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.1360G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.1360G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Val454Met"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Val454Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "G",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.2:c.-406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:n.-406G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682899"
    }
  ],
  "type": "nucleotide"
}