{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3600858",
  "communityStandardTitle": [
    "NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=699044[alleleid]",
        "alleleId": 699044,
        "preferredName": "NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/772831",
        "RCV": [
          "RCV000952476"
        ],
        "variationId": 772831
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-179263471-A-C",
        "id": "5-179263471-A-C",
        "variant": "5:179263471 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179263471A>C?assembly=hg19",
        "id": "chr5:g.179263471A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179836471A>C?assembly=hg38",
        "id": "chr5:g.179836471A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201795943",
        "rs": 201795943
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179263471-A-C?dataset=gnomad_r2_1",
        "id": "5-179263471-A-C",
        "variant": "5:179263471 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179836471-A-C?dataset=gnomad_r3",
        "id": "5-179836471-A-C",
        "variant": "5:179836471 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179836471-A-C?dataset=gnomad_r4",
        "id": "5-179836471-A-C",
        "variant": "5:179836471 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 179836471,
          "referenceAllele": "A",
          "start": 179836470
        }
      ],
      "hgvs": [
        "NC_000005.10:g.179836471A>C",
        "CM000667.2:g.179836471A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 179263471,
          "referenceAllele": "A",
          "start": 179263470
        }
      ],
      "hgvs": [
        "NC_000005.9:g.179263471A>C",
        "CM000667.1:g.179263471A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 179196077,
          "referenceAllele": "A",
          "start": 179196076
        }
      ],
      "hgvs": [
        "NC_000005.8:g.179196077A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35084,
          "referenceAllele": "A",
          "start": 35083
        }
      ],
      "hgvs": [
        "NG_011342.1:g.35084A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001707"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "A",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000389805.9:c.1201A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374455.4:p.Met401Leu",
        "hgvsWellDefined": "ENSP00000374455.4:p.Met401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389805.9:c.1201A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003900.5:c.1201A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374455.4:p.Met401Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003891.1:p.Met401Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "referenceAllele": "A",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000360718.5:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353944.5:p.Met317Leu",
        "hgvsWellDefined": "ENSP00000353944.5:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "A",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000389805.8:c.1201A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374455.4:p.Met401Leu",
        "hgvsWellDefined": "ENSP00000374455.4:p.Met401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000510187.5:c.951A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424477.1:p.Glu317Asp",
        "hgvsWellDefined": "ENSP00000424477.1:p.Glu317Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1541,
          "referenceAllele": "T",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030817",
      "geneNCBI_id": 51149,
      "geneSymbol": "MRNIP",
      "hgvs": [
        "ENST00000522663.5:c.*1219T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429835.1:n.*1219T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825842490",
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142298.1:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135770.1:p.Met317Leu",
        "hgvsWellDefined": "NP_001135770.1:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825842910",
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "A",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142299.1:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135771.1:p.Met317Leu",
        "hgvsWellDefined": "NP_001135771.1:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_003900.4:c.1201A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003891.1:p.Met401Leu",
        "hgvsWellDefined": "NP_003891.1:p.Met401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "A",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "XM_017010010.1:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865499.1:p.Met317Leu",
        "hgvsWellDefined": "XP_016865499.1:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "A",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_003900.5:c.1201A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003891.1:p.Met401Leu",
        "hgvsWellDefined": "NP_003891.1:p.Met401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666237",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389805.9:c.1201A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003900.5:c.1201A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374455.4:p.Met401Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003891.1:p.Met401Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825842490",
      "coordinates": [
        {
          "allele": "C",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142298.2:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135770.1:p.Met317Leu",
        "hgvsWellDefined": "NP_001135770.1:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825842910",
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142299.2:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135771.1:p.Met317Leu",
        "hgvsWellDefined": "NP_001135771.1:p.Met317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677498"
    }
  ],
  "type": "nucleotide"
}