Canonical Allele Identifier: CA413930819

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360098C>A , CM000685.2:g.101360098C>A	GRCh38
NC_000023.10:g.100615086C>A , CM000685.1:g.100615086C>A	GRCh37
NC_000023.9:g.100501742C>A	NCBI36
NG_009616.1:g.31127G>T , LRG_128:g.31127G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.829G>T MANE Select	NP_000052.1:p.Glu277Ter
ENST00000308731.8:c.829G>T MANE Select	ENSP00000308176.8:p.Glu277Ter
NM_000061.2:c.829G>T , LRG_128t1:c.829G>T	NP_000052.1:p.Glu277Ter
NM_001287344.1:c.931G>T	NP_001274273.1:p.Glu311Ter
NM_001287344.2:c.931G>T	NP_001274273.1:p.Glu311Ter
NM_001287345.1:c.829G>T	NP_001274274.1:p.Glu277Ter
NM_001287345.2:c.829G>T	NP_001274274.1:p.Glu277Ter
ENST00000308731.7:c.829G>T	ENSP00000308176.7:p.Glu277Ter
ENST00000372880.5:c.829G>T	ENSP00000361971.1:p.Glu277Ter
ENST00000464006.2:n.609G>T
ENST00000478995.2:n.989G>T
ENST00000488970.2:n.987G>T
ENST00000618050.4:c.829G>T	ENSP00000479125.1:p.Glu277Ter
ENST00000621635.4:c.931G>T	ENSP00000483570.1:p.Glu311Ter
ENST00000695614.1:c.829G>T	ENSP00000512053.1:p.Glu277Ter
ENST00000695615.1:c.829G>T	ENSP00000512054.1:p.Glu277Ter
ENST00000695616.1:c.*674G>T	ENSP00000512055.1:n.*674G>T
ENST00000695617.1:c.826G>T	ENSP00000512056.1:p.Glu276Ter
ENST00000695618.1:c.*578G>T	ENSP00000512058.1:n.*578G>T
ENST00000695619.1:c.*674G>T	ENSP00000512059.1:n.*674G>T
ENST00000695620.1:c.*674G>T	ENSP00000512060.1:n.*674G>T
ENST00000695621.1:c.829G>T	ENSP00000512061.1:p.Glu277Ter
ENST00000695622.1:c.776+470G>T	ENSP00000512062.1:n.776+470G>T
ENST00000695623.1:c.829G>T	ENSP00000512063.1:p.Glu277Ter
ENST00000695624.1:n.134G>T
ENST00000695625.1:c.829G>T	ENSP00000512064.1:p.Glu277Ter
ENST00000703407.1:c.829G>T	ENSP00000512057.1:p.Glu277Ter