{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10600039",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1011A>C (p.Glu337Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2672332[alleleid]",
        "alleleId": 2672332,
        "preferredName": "NM_007294.4(BRCA1):c.1011A>C (p.Glu337Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2507342",
        "RCV": [
          "RCV003239233"
        ],
        "variationId": 2507342
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246537T>G?assembly=hg19",
        "id": "chr17:g.41246537T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094520T>G?assembly=hg38",
        "id": "chr17:g.43094520T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555592670",
        "rs": 1555592670
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43094520,
          "referenceAllele": "T",
          "start": 43094519
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094520T>G",
        "CM000679.2:g.43094520T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41246537,
          "referenceAllele": "T",
          "start": 41246536
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246537T>G",
        "CM000679.1:g.41246537T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38500063,
          "referenceAllele": "T",
          "start": 38500062
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38500063T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123464,
          "referenceAllele": "A",
          "start": 123463
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123464A>C",
        "LRG_292:g.123464A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1075A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000417241.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000419274.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "referenceAllele": "A",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.885A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Glu295Asp",
        "hgvsWellDefined": "ENSP00000420201.2:p.Glu295Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1008A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Glu336Asp",
        "hgvsWellDefined": "ENSP00000417554.2:p.Glu336Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.933A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Glu311Asp",
        "hgvsWellDefined": "ENSP00000419988.2:p.Glu311Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.933A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Glu311Asp",
        "hgvsWellDefined": "ENSP00000420781.2:p.Glu311Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000419103.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "A",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.123A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Glu41Asp",
        "hgvsWellDefined": "ENSP00000418986.2:p.Glu41Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "A",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000478114.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.888A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Glu296Asp",
        "hgvsWellDefined": "ENSP00000489431.2:p.Glu296Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000496570.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1356,
          "referenceAllele": "A",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Glu290Asp",
        "hgvsWellDefined": "ENSP00000498906.2:p.Glu290Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1019A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1019A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000350283.3:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1011A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1011A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu337Asp"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu337Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000418960.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "A",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*885A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*885A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1356,
          "referenceAllele": "A",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Glu290Asp",
        "hgvsWellDefined": "ENSP00000498906.1:p.Glu290Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1326,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1326A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1326A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000326002.7:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000350283.3:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "A",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.362A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*794A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*794A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000419274.1:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000418960.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.608A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.933A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Glu311Asp",
        "hgvsWellDefined": "ENSP00000419988.1:p.Glu311Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*947A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*947A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1102,
          "referenceAllele": "A",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Glu290Asp",
        "hgvsWellDefined": "ENSP00000418775.1:p.Glu290Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Glu337Asp",
        "hgvsWellDefined": "ENSP00000419103.1:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "A",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.123A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Glu41Asp",
        "hgvsWellDefined": "ENSP00000418986.1:p.Glu41Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30568,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19998,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19999A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19999A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30751,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30751A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30751A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.888A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Glu296Asp",
        "hgvsWellDefined": "ENSP00000489431.1:p.Glu296Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678038",
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1011A>C",
        "LRG_292t1:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu337Asp",
        "hgvsWellDefined": "NP_009225.1:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688089",
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu290Asp",
        "hgvsWellDefined": "NP_009228.2:p.Glu290Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829718257",
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu337Asp",
        "hgvsWellDefined": "NP_009231.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1147A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678038",
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu337Asp",
        "hgvsWellDefined": "NP_009225.1:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1011A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1011A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu337Asp"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu337Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688089",
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu290Asp",
        "hgvsWellDefined": "NP_009228.2:p.Glu290Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+224A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+224A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829718257",
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1011A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu337Asp",
        "hgvsWellDefined": "NP_009231.2:p.Glu337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "A",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1188A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}