{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15743545",
  "communityStandardTitle": [
    "NM_002332.3(LRP1):c.841+1992C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57541265C>T?assembly=hg19",
        "id": "chr12:g.57541265C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57147482C>T?assembly=hg38",
        "id": "chr12:g.57147482C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2306692",
        "rs": 2306692
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57541265-C-T?dataset=gnomad_r2_1",
        "id": "12-57541265-C-T",
        "variant": "12:57541265 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57147482-C-T?dataset=gnomad_r3",
        "id": "12-57147482-C-T",
        "variant": "12:57147482 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57147482-C-T?dataset=gnomad_r4",
        "id": "12-57147482-C-T",
        "variant": "12:57147482 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57147482,
          "referenceAllele": "C",
          "start": 57147481
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57147482C>T",
        "CM000674.2:g.57147482C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57541265,
          "referenceAllele": "C",
          "start": 57541264
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57541265C>T",
        "CM000674.1:g.57541265C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 55827532,
          "referenceAllele": "C",
          "start": 55827531
        }
      ],
      "hgvs": [
        "NC_000012.10:g.55827532C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23984,
          "referenceAllele": "C",
          "start": 23983
        }
      ],
      "hgvs": [
        "NG_016444.1:g.23984C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "ENST00000243077.8:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243077.3:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243077.8:c.841+1992C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002332.3:c.841+1992C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243077.3:n.841+1992C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002323.2:n.841+1992C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1307,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "ENST00000243077.7:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243077.3:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "C",
          "start": 1090,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "ENST00000338962.8:c.842-1499C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341264.4:n.842-1499C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "ENST00000553277.5:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451449.1:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "ENST00000554174.1:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451737.1:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1307,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "NM_002332.2:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002323.2:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051694",
      "geneNCBI_id": 105751187,
      "geneSymbol": "LRP1-AS",
      "hgvs": [
        "NR_131938.1:n.138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051694",
      "geneNCBI_id": 105751187,
      "geneSymbol": "LRP1-AS",
      "hgvs": [
        "NR_131939.1:n.138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "XM_017019303.1:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874792.1:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 1992,
          "referenceAllele": "C",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006692",
      "geneNCBI_id": 4035,
      "geneSymbol": "LRP1",
      "hgvs": [
        "NM_002332.3:c.841+1992C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002323.2:n.841+1992C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243077.8:c.841+1992C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002332.3:c.841+1992C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243077.3:n.841+1992C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002323.2:n.841+1992C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}