Canonical Allele Identifier: CA413918602
Gene: BTK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353222T>C , CM000685.2:g.101353222T>C GRCh38
NC_000023.10:g.100608210T>C , CM000685.1:g.100608210T>C GRCh37
NC_000023.9:g.100494866T>C NCBI36
NG_009616.1:g.38003A>G , LRG_128:g.38003A>G
NG_011734.1:g.748A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3397A>G
ENST00000488970.2:n.4036A>G
ENST00000695614.1:c.1880A>G ENSP00000512053.1:p.Tyr627Cys
ENST00000695615.1:c.1880A>G ENSP00000512054.1:p.Tyr627Cys
ENST00000695616.1:c.*1725A>G ENSP00000512055.1:n.*1725A>G
ENST00000695617.1:c.1877A>G ENSP00000512056.1:p.Tyr626Cys
ENST00000695618.1:c.*1629A>G ENSP00000512058.1:n.*1629A>G
ENST00000695619.1:c.*1590A>G ENSP00000512059.1:n.*1590A>G
ENST00000695620.1:c.*1806A>G ENSP00000512060.1:n.*1806A>G
ENST00000695621.1:c.*305A>G ENSP00000512061.1:n.*305A>G
ENST00000695622.1:c.1817A>G ENSP00000512062.1:p.Tyr606Cys
ENST00000695623.1:c.1874A>G ENSP00000512063.1:p.Tyr625Cys
ENST00000695624.1:n.1185A>G
ENST00000695625.1:c.1875+5A>G ENSP00000512064.1:n.1875+5A>G
ENST00000695626.1:c.635A>G ENSP00000512065.1:n.635A>G
ENST00000695627.1:c.828A>G ENSP00000512066.1:n.828A>G
ENST00000695628.1:c.439A>G ENSP00000512067.1:n.439A>G
ENST00000695629.1:c.320A>G ENSP00000512068.1:p.Tyr107Cys
ENST00000695630.1:c.607A>G
ENST00000695631.1:c.141A>G
ENST00000703407.1:c.1352A>G ENSP00000512057.1:p.Tyr451Cys
ENST00000308731.8:c.1880A>G MANE Select ENSP00000308176.8:p.Tyr627Cys
ENST00000308731.7:c.1880A>G ENSP00000308176.7:p.Tyr627Cys
ENST00000372880.5:c.1352A>G ENSP00000361971.1:p.Tyr451Cys
ENST00000470069.1:n.245A>G
ENST00000618050.4:c.1879A>G ENSP00000479125.1:n.1879A>G
ENST00000621635.4:c.1982A>G ENSP00000483570.1:p.Tyr661Cys
NM_000061.2:c.1880A>G , LRG_128t1:c.1880A>G NP_000052.1:p.Tyr627Cys
NM_001287344.1:c.1982A>G NP_001274273.1:p.Tyr661Cys
NM_001287345.1:c.1352A>G NP_001274274.1:p.Tyr451Cys
NM_000061.3:c.1880A>G MANE Select NP_000052.1:p.Tyr627Cys
NM_001287344.2:c.1982A>G NP_001274273.1:p.Tyr661Cys
NM_001287345.2:c.1352A>G NP_001274274.1:p.Tyr451Cys