{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602663",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.787A>C (p.Thr263Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM21684"
      },
      {
        "active": false,
        "id": "COSM1559809"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363087[alleleid]",
        "alleleId": 363087,
        "preferredName": "NM_005228.5(EGFR):c.787A>C (p.Thr263Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376208",
        "RCV": [
          "RCV000444169"
        ],
        "variationId": 376208
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4530046",
        "RCV": [
          "RCV006254505",
          "RCV006254506"
        ],
        "variationId": 4530046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55221743A>C?assembly=hg19",
        "id": "chr7:g.55221743A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55154050A>C?assembly=hg38",
        "id": "chr7:g.55154050A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519829",
        "rs": 1057519829
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55154050,
          "referenceAllele": "A",
          "start": 55154049
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55154050A>C",
        "CM000669.2:g.55154050A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55221743,
          "referenceAllele": "A",
          "start": 55221742
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55221743A>C",
        "CM000669.1:g.55221743A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55189237,
          "referenceAllele": "A",
          "start": 55189236
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55189237A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140019,
          "referenceAllele": "A",
          "start": 140018
        }
      ],
      "hgvs": [
        "NG_007726.3:g.140019A>C",
        "LRG_304:g.140019A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.628A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Thr210Pro",
        "hgvsWellDefined": "ENSP00000413354.2:p.Thr210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "referenceAllele": "A",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700144.1:n.977A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000344576.7:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345973.2:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000345973.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000275493.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.787A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.787A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Thr263Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Thr263Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000275493.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000342916.7:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342376.3:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000342376.3:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000344576.6:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345973.2:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000345973.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "A",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000420316.6:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413843.2:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000413843.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "referenceAllele": "A",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:p.Thr263Pro",
        "hgvsWellDefined": "ENSP00000410031.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Thr218Pro",
        "hgvsWellDefined": "ENSP00000395243.3:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Thr218Pro",
        "hgvsWellDefined": "ENSP00000415559.1:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473425",
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.787A>C",
        "LRG_304t1:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Thr263Pro",
        "hgvsWellDefined": "NP_005219.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830471099",
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201282.1:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958439.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958439.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830472888",
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201283.1:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958440.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958440.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916064821",
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201284.1:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958441.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958441.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827387220",
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Thr218Pro",
        "hgvsWellDefined": "NP_001333826.1:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389045",
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_001333827.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827390781",
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Thr218Pro",
        "hgvsWellDefined": "NP_001333828.1:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827392557",
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.628A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Thr210Pro",
        "hgvsWellDefined": "NP_001333829.1:p.Thr210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 1779,
          "referenceAllele": "A",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.89-1780A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:n.89-1780A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473425",
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Thr263Pro",
        "hgvsWellDefined": "NP_005219.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473425",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Thr263Pro",
        "hgvsWellDefined": "NP_005219.2:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.787A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.787A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Thr263Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Thr263Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827387220",
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Thr218Pro",
        "hgvsWellDefined": "NP_001333826.1:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389045",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_001333827.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827392557",
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.628A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Thr210Pro",
        "hgvsWellDefined": "NP_001333829.1:p.Thr210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 1779,
          "referenceAllele": "A",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.89-1780A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:n.89-1780A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830471099",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201282.2:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958439.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958439.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916064821",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201284.2:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958441.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958441.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827390781",
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.652A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Thr218Pro",
        "hgvsWellDefined": "NP_001333828.1:p.Thr218Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830472888",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_201283.2:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958440.1:p.Thr263Pro",
        "hgvsWellDefined": "NP_958440.1:p.Thr263Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730003"
    }
  ],
  "type": "nucleotide"
}