{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12780842",
  "communityStandardTitle": [
    "NC_000008.11:g.143972494C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145046662C>T?assembly=hg19",
        "id": "chr8:g.145046662C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143972494C>T?assembly=hg38",
        "id": "chr8:g.143972494C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11785060",
        "rs": 11785060
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145046662-C-T?dataset=gnomad_r2_1",
        "id": "8-145046662-C-T",
        "variant": "8:145046662 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143972494-C-T?dataset=gnomad_r3",
        "id": "8-143972494-C-T",
        "variant": "8:143972494 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143972494-C-T?dataset=gnomad_r4",
        "id": "8-143972494-C-T",
        "variant": "8:143972494 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143972494,
          "referenceAllele": "C",
          "start": 143972493
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143972494C>T",
        "CM000670.2:g.143972494C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145046662,
          "referenceAllele": "C",
          "start": 145046661
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145046662C>T",
        "CM000670.1:g.145046662C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145118650,
          "referenceAllele": "C",
          "start": 145118649
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145118650C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9252,
          "referenceAllele": "G",
          "start": 9251
        }
      ],
      "hgvs": [
        "NG_012492.1:g.9252G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.70+909G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:n.70+909G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.70+909G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.70+909G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:n.70+909G>A"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:n.70+909G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.5:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.1:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 43,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000532346.1:n.43+2683G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.70+909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:n.70+909G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.70+909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:n.70+909G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 126,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.70+909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:n.70+909G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2683,
          "referenceAllele": "G",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.193+2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:n.193+2683G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.70+909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:n.70+909G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.70+909G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.70+909G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:n.70+909G>A"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:n.70+909G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}