Canonical Allele Identifier: CA413929786

Gene: BTK

Linked Data

• COSMIC: COSM1111838
• MyVariant Identifiers: chrX:g.100614295G>T (hg19) ; chrX:g.101359307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359307G>T , CM000685.2:g.101359307G>T	GRCh38
NC_000023.10:g.100614295G>T , CM000685.1:g.100614295G>T	GRCh37
NC_000023.9:g.100500951G>T	NCBI36
NG_009616.1:g.31918C>A , LRG_128:g.31918C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.660C>A
ENST00000478995.2:n.1040C>A
ENST00000488970.2:n.1038C>A
ENST00000695614.1:c.880C>A	ENSP00000512053.1:p.Leu294Met
ENST00000695615.1:c.880C>A	ENSP00000512054.1:p.Leu294Met
ENST00000695616.1:c.*725C>A	ENSP00000512055.1:n.*725C>A
ENST00000695617.1:c.877C>A	ENSP00000512056.1:p.Leu293Met
ENST00000695618.1:c.*629C>A	ENSP00000512058.1:n.*629C>A
ENST00000695619.1:c.*684+781C>A	ENSP00000512059.1:n.*684+781C>A
ENST00000695620.1:c.*725C>A	ENSP00000512060.1:n.*725C>A
ENST00000695621.1:c.880C>A	ENSP00000512061.1:p.Leu294Met
ENST00000695622.1:c.817C>A	ENSP00000512062.1:p.Leu273Met
ENST00000695623.1:c.874C>A	ENSP00000512063.1:p.Leu292Met
ENST00000695624.1:n.185C>A
ENST00000695625.1:c.880C>A	ENSP00000512064.1:p.Leu294Met
ENST00000703407.1:c.880C>A	ENSP00000512057.1:p.Leu294Met
ENST00000308731.8:c.880C>A MANE Select	ENSP00000308176.8:p.Leu294Met
ENST00000308731.7:c.880C>A	ENSP00000308176.7:p.Leu294Met
ENST00000372880.5:c.880C>A	ENSP00000361971.1:p.Leu294Met
ENST00000618050.4:c.880C>A	ENSP00000479125.1:p.Leu294Met
ENST00000621635.4:c.982C>A	ENSP00000483570.1:p.Leu328Met
NM_000061.2:c.880C>A , LRG_128t1:c.880C>A	NP_000052.1:p.Leu294Met
NM_001287344.1:c.982C>A	NP_001274273.1:p.Leu328Met
NM_001287345.1:c.880C>A	NP_001274274.1:p.Leu294Met
NM_000061.3:c.880C>A MANE Select	NP_000052.1:p.Leu294Met
NM_001287344.2:c.982C>A	NP_001274273.1:p.Leu328Met
NM_001287345.2:c.880C>A	NP_001274274.1:p.Leu294Met