Canonical Allele Identifier: CA2579663821

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349813G>T , CM000685.2:g.101349813G>T	GRCh38
NC_000023.10:g.100604801G>T , CM000685.1:g.100604801G>T	GRCh37
NC_000023.9:g.100491457G>T	NCBI36
NG_009616.1:g.41412C>A , LRG_128:g.41412C>A
NG_011734.1:g.4157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3569C>A
ENST00000488970.2:n.4208C>A
ENST00000695614.1:c.*72C>A	ENSP00000512053.1:n.*72C>A
ENST00000695615.1:c.*72C>A	ENSP00000512054.1:n.*72C>A
ENST00000695616.1:c.*1897C>A	ENSP00000512055.1:n.*1897C>A
ENST00000695617.1:c.*72C>A	ENSP00000512056.1:n.*72C>A
ENST00000695618.1:c.*1801C>A	ENSP00000512058.1:n.*1801C>A
ENST00000695619.1:c.*1762C>A	ENSP00000512059.1:n.*1762C>A
ENST00000695620.1:c.*1978C>A	ENSP00000512060.1:n.*1978C>A
ENST00000695621.1:c.*477C>A	ENSP00000512061.1:n.*477C>A
ENST00000695622.1:c.*72C>A	ENSP00000512062.1:n.*72C>A
ENST00000695623.1:c.*72C>A	ENSP00000512063.1:n.*72C>A
ENST00000695624.1:n.1357C>A
ENST00000695625.1:c.*72C>A	ENSP00000512064.1:n.*72C>A
ENST00000695626.1:c.807C>A	ENSP00000512065.1:n.807C>A
ENST00000695627.1:c.1000C>A	ENSP00000512066.1:n.1000C>A
ENST00000695628.1:c.611C>A	ENSP00000512067.1:n.611C>A
ENST00000695629.1:c.492C>A	ENSP00000512068.1:n.492C>A
ENST00000703407.1:c.*72C>A	ENSP00000512057.1:n.*72C>A
ENST00000308731.8:c.*72C>A MANE Select	ENSP00000308176.8:n.*72C>A
ENST00000308731.7:c.*72C>A	ENSP00000308176.7:n.*72C>A
ENST00000372880.5:c.*72C>A	ENSP00000361971.1:n.*72C>A
ENST00000618050.4:c.2051C>A	ENSP00000479125.1:n.2051C>A
ENST00000621635.4:c.*72C>A	ENSP00000483570.1:n.*72C>A
NM_000061.2:c.*72C>A , LRG_128t1:c.*72C>A	NP_000052.1:n.*72C>A
NM_001287344.1:c.*72C>A	NP_001274273.1:n.*72C>A
NM_001287345.1:c.*72C>A	NP_001274274.1:n.*72C>A
NM_000061.3:c.*72C>A MANE Select	NP_000052.1:n.*72C>A
NM_001287344.2:c.*72C>A	NP_001274273.1:n.*72C>A
NM_001287345.2:c.*72C>A	NP_001274274.1:n.*72C>A