{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA517535667",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.240G>A (p.Pro80=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621659[alleleid]",
        "alleleId": 621659,
        "preferredName": "NM_000061.3(BTK):c.240G>A (p.Pro80=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632730",
        "RCV": [
          "RCV000780072",
          "RCV001027548",
          "RCV001873186"
        ],
        "variationId": 632730
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100629524C>T?assembly=hg19",
        "id": "chrX:g.100629524C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569296295",
        "rs": 1569296295
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101374536,
          "referenceAllele": "C",
          "start": 101374535
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101374536C>T",
        "CM000685.2:g.101374536C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100629524,
          "referenceAllele": "C",
          "start": 100629523
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100629524C>T",
        "CM000685.1:g.100629524C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100516180,
          "referenceAllele": "C",
          "start": 100516179
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100516180C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16689,
          "referenceAllele": "G",
          "start": 16688
        }
      ],
      "hgvs": [
        "NG_009616.1:g.16689G>A",
        "LRG_128:g.16689G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.400G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*85G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*85G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Pro79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*85G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*85G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*85G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*85G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695633.1:n.553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.240G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.240G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro80="
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro80="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000464567.1:n.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028630",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.240G>A",
        "LRG_128t1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742540",
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742665",
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028630",
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.240G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.240G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro80="
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro80="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742540",
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742665",
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}