Canonical Allele Identifier: CA413920486

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608917G>C (hg19) ; chrX:g.101353929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353929G>C , CM000685.2:g.101353929G>C	GRCh38
NC_000023.10:g.100608917G>C , CM000685.1:g.100608917G>C	GRCh37
NC_000023.9:g.100495573G>C	NCBI36
NG_009616.1:g.37296C>G , LRG_128:g.37296C>G
NG_011734.1:g.41C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3208C>G
ENST00000488970.2:n.3847C>G
ENST00000695614.1:c.1691C>G	ENSP00000512053.1:p.Ser564Cys
ENST00000695615.1:c.1691C>G	ENSP00000512054.1:p.Ser564Cys
ENST00000695616.1:c.*1536C>G	ENSP00000512055.1:n.*1536C>G
ENST00000695617.1:c.1688C>G	ENSP00000512056.1:p.Ser563Cys
ENST00000695618.1:c.*1440C>G	ENSP00000512058.1:n.*1440C>G
ENST00000695619.1:c.*1401C>G	ENSP00000512059.1:n.*1401C>G
ENST00000695620.1:c.*1617C>G	ENSP00000512060.1:n.*1617C>G
ENST00000695621.1:c.*116C>G	ENSP00000512061.1:n.*116C>G
ENST00000695622.1:c.1628C>G	ENSP00000512062.1:p.Ser543Cys
ENST00000695623.1:c.1685C>G	ENSP00000512063.1:p.Ser562Cys
ENST00000695624.1:n.996C>G
ENST00000695625.1:c.1691C>G	ENSP00000512064.1:p.Ser564Cys
ENST00000695626.1:c.446C>G	ENSP00000512065.1:n.446C>G
ENST00000695627.1:c.639C>G	ENSP00000512066.1:n.639C>G
ENST00000695628.1:c.250C>G	ENSP00000512067.1:n.250C>G
ENST00000695629.1:c.191-578C>G	ENSP00000512068.1:n.191-578C>G
ENST00000695630.1:c.418C>G
ENST00000695631.1:c.115-681C>G
ENST00000695632.1:n.491C>G
ENST00000703407.1:c.1163C>G	ENSP00000512057.1:p.Ser388Cys
ENST00000308731.8:c.1691C>G MANE Select	ENSP00000308176.8:p.Ser564Cys
ENST00000308731.7:c.1691C>G	ENSP00000308176.7:p.Ser564Cys
ENST00000372880.5:c.1163C>G	ENSP00000361971.1:p.Ser388Cys
ENST00000470069.1:n.56C>G
ENST00000488970.1:n.293C>G
ENST00000618050.4:c.1691C>G	ENSP00000479125.1:p.Ser564Cys
ENST00000621635.4:c.1793C>G	ENSP00000483570.1:p.Ser598Cys
NM_000061.2:c.1691C>G , LRG_128t1:c.1691C>G	NP_000052.1:p.Ser564Cys
NM_001287344.1:c.1793C>G	NP_001274273.1:p.Ser598Cys
NM_001287345.1:c.1163C>G	NP_001274274.1:p.Ser388Cys
NM_000061.3:c.1691C>G MANE Select	NP_000052.1:p.Ser564Cys
NM_001287344.2:c.1793C>G	NP_001274273.1:p.Ser598Cys
NM_001287345.2:c.1163C>G	NP_001274274.1:p.Ser388Cys