{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413919351",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1052227[alleleid]",
        "alleleId": 1052227,
        "preferredName": "NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1058237",
        "RCV": [
          "RCV001367344",
          "RCV001548637"
        ],
        "variationId": 1058237
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100608301G>A?assembly=hg19",
        "id": "chrX:g.100608301G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101353313G>A?assembly=hg38",
        "id": "chrX:g.101353313G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/868967798",
        "rs": 868967798
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101353313,
          "referenceAllele": "G",
          "start": 101353312
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101353313G>A",
        "CM000685.2:g.101353313G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100608301,
          "referenceAllele": "G",
          "start": 100608300
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100608301G>A",
        "CM000685.1:g.100608301G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100494957,
          "referenceAllele": "G",
          "start": 100494956
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100494957G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37912,
          "referenceAllele": "C",
          "start": 37911
        }
      ],
      "hgvs": [
        "NG_009616.1:g.37912C>T",
        "LRG_128:g.37912C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "hgvs": [
        "NG_011734.1:g.657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001937"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3306,
          "referenceAllele": "C",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.3306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3945,
          "referenceAllele": "C",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.3945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Pro597Ser",
        "hgvsWellDefined": "ENSP00000512053.1:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Pro597Ser",
        "hgvsWellDefined": "ENSP00000512054.1:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*1634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*1634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.1786C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Pro596Ser",
        "hgvsWellDefined": "ENSP00000512056.1:p.Pro596Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*1538C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*1538C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*1499C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*1499C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*1715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*1715C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.*214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:n.*214C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Pro576Ser",
        "hgvsWellDefined": "ENSP00000512062.1:p.Pro576Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Pro595Ser",
        "hgvsWellDefined": "ENSP00000512063.1:p.Pro595Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695624.1:n.1094C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Pro597Ser",
        "hgvsWellDefined": "ENSP00000512064.1:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695626.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512065.1:n.544C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695627.1:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512066.1:n.737C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695628.1:c.348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512067.1:n.348C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695629.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512068.1:p.Pro77Ser",
        "hgvsWellDefined": "ENSP00000512068.1:p.Pro77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695630.1:c.516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 64,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695631.1:c.115-65C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Pro421Ser",
        "hgvsWellDefined": "ENSP00000512057.1:p.Pro421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Pro597Ser",
        "hgvsWellDefined": "ENSP00000308176.8:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro597Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro597Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Pro597Ser",
        "hgvsWellDefined": "ENSP00000308176.7:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Pro421Ser",
        "hgvsWellDefined": "ENSP00000361971.1:p.Pro421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000470069.1:n.154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.1788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:n.1788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1891C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Pro631Ser",
        "hgvsWellDefined": "ENSP00000483570.1:p.Pro631Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029081",
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1789C>T",
        "LRG_128t1:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro597Ser",
        "hgvsWellDefined": "NP_000052.1:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499245980",
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1891C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro631Ser",
        "hgvsWellDefined": "NP_001274273.1:p.Pro631Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742857",
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro421Ser",
        "hgvsWellDefined": "NP_001274274.1:p.Pro421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029081",
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro597Ser",
        "hgvsWellDefined": "NP_000052.1:p.Pro597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro597Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro597Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499245980",
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1891C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro631Ser",
        "hgvsWellDefined": "NP_001274273.1:p.Pro631Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742857",
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro421Ser",
        "hgvsWellDefined": "NP_001274274.1:p.Pro421Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}