Canonical Allele Identifier: CA413919315

Gene: BTK

Linked Data

• ClinVar Variation Id: 2138637
• ClinVar RCV Id: RCV003064753
• MyVariant Identifiers: chrX:g.100608297T>C (hg19) ; chrX:g.101353309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353309T>C , CM000685.2:g.101353309T>C	GRCh38
NC_000023.10:g.100608297T>C , CM000685.1:g.100608297T>C	GRCh37
NC_000023.9:g.100494953T>C	NCBI36
NG_009616.1:g.37916A>G , LRG_128:g.37916A>G
NG_011734.1:g.661A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3310A>G
ENST00000488970.2:n.3949A>G
ENST00000695614.1:c.1793A>G	ENSP00000512053.1:p.Tyr598Cys
ENST00000695615.1:c.1793A>G	ENSP00000512054.1:p.Tyr598Cys
ENST00000695616.1:c.*1638A>G	ENSP00000512055.1:n.*1638A>G
ENST00000695617.1:c.1790A>G	ENSP00000512056.1:p.Tyr597Cys
ENST00000695618.1:c.*1542A>G	ENSP00000512058.1:n.*1542A>G
ENST00000695619.1:c.*1503A>G	ENSP00000512059.1:n.*1503A>G
ENST00000695620.1:c.*1719A>G	ENSP00000512060.1:n.*1719A>G
ENST00000695621.1:c.*218A>G	ENSP00000512061.1:n.*218A>G
ENST00000695622.1:c.1730A>G	ENSP00000512062.1:p.Tyr577Cys
ENST00000695623.1:c.1787A>G	ENSP00000512063.1:p.Tyr596Cys
ENST00000695624.1:n.1098A>G
ENST00000695625.1:c.1793A>G	ENSP00000512064.1:p.Tyr598Cys
ENST00000695626.1:c.548A>G	ENSP00000512065.1:n.548A>G
ENST00000695627.1:c.741A>G	ENSP00000512066.1:n.741A>G
ENST00000695628.1:c.352A>G	ENSP00000512067.1:n.352A>G
ENST00000695629.1:c.233A>G	ENSP00000512068.1:p.Tyr78Cys
ENST00000695630.1:c.520A>G
ENST00000695631.1:c.115-61A>G
ENST00000703407.1:c.1265A>G	ENSP00000512057.1:p.Tyr422Cys
ENST00000308731.8:c.1793A>G MANE Select	ENSP00000308176.8:p.Tyr598Cys
ENST00000308731.7:c.1793A>G	ENSP00000308176.7:p.Tyr598Cys
ENST00000372880.5:c.1265A>G	ENSP00000361971.1:p.Tyr422Cys
ENST00000470069.1:n.158A>G
ENST00000618050.4:c.1792A>G	ENSP00000479125.1:n.1792A>G
ENST00000621635.4:c.1895A>G	ENSP00000483570.1:p.Tyr632Cys
NM_000061.2:c.1793A>G , LRG_128t1:c.1793A>G	NP_000052.1:p.Tyr598Cys
NM_001287344.1:c.1895A>G	NP_001274273.1:p.Tyr632Cys
NM_001287345.1:c.1265A>G	NP_001274274.1:p.Tyr422Cys
NM_000061.3:c.1793A>G MANE Select	NP_000052.1:p.Tyr598Cys
NM_001287344.2:c.1895A>G	NP_001274273.1:p.Tyr632Cys
NM_001287345.2:c.1265A>G	NP_001274274.1:p.Tyr422Cys