{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8569677",
  "communityStandardTitle": [
    "NM_033133.5(CNP):c.1188G>A (p.Gly396=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3755546"
      },
      {
        "active": false,
        "id": "COSM3755547"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-40125864-G-A",
        "id": "17-40125864-G-A",
        "variant": "17:40125864 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40125864G>A?assembly=hg19",
        "id": "chr17:g.40125864G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41973846G>A?assembly=hg38",
        "id": "chr17:g.41973846G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2070106",
        "rs": 2070106
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40125864-G-A?dataset=gnomad_r2_1",
        "id": "17-40125864-G-A",
        "variant": "17:40125864 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41973846-G-A?dataset=gnomad_r3",
        "id": "17-41973846-G-A",
        "variant": "17:41973846 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41973846-G-A?dataset=gnomad_r4",
        "id": "17-41973846-G-A",
        "variant": "17:41973846 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41973846,
          "referenceAllele": "G",
          "start": 41973845
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41973846G>A",
        "CM000679.2:g.41973846G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 40125864,
          "referenceAllele": "G",
          "start": 40125863
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40125864G>A",
        "CM000679.1:g.40125864G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37379390,
          "referenceAllele": "G",
          "start": 37379389
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37379390G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "ENST00000393892.8:c.1188G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377470.2:p.Gly396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753183",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393892.8:c.1188G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033133.5:c.1188G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377470.2:p.Gly396="
          },
          "RefSeq": {
            "hgvs": "NP_149124.3:p.Gly396="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "ENST00000393888.1:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377466.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "ENST00000393892.7:c.1188G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377470.2:p.Gly396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "ENST00000472031.1:c.*365G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467641.1:n.*365G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "ENST00000486438.1:n.795G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083951635",
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "NM_033133.4:c.1188G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149124.3:p.Gly396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1356,
          "referenceAllele": "G",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "XM_006721701.2:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721764.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "XM_011524340.1:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522642.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "NM_001330216.1:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317145.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "XM_011524340.2:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522642.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083951635",
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "NM_033133.5:c.1188G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149124.3:p.Gly396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671512",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393892.8:c.1188G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033133.5:c.1188G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377470.2:p.Gly396="
          },
          "RefSeq": {
            "hgvs": "NP_149124.3:p.Gly396="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002158",
      "geneNCBI_id": 1267,
      "geneSymbol": "CNP",
      "hgvs": [
        "NM_001330216.2:c.1128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317145.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686812"
    }
  ],
  "type": "nucleotide"
}