Canonical Allele Identifier: CA517534958

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101362188C>A , CM000685.2:g.101362188C>A	GRCh38
NC_000023.10:g.100617176C>A , CM000685.1:g.100617176C>A	GRCh37
NC_000023.9:g.100503832C>A	NCBI36
NG_009616.1:g.29037G>T , LRG_128:g.29037G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.573G>T MANE Select	NP_000052.1:p.Thr191=
ENST00000308731.8:c.573G>T MANE Select	ENSP00000308176.8:p.Thr191=
NM_000061.2:c.573G>T , LRG_128t1:c.573G>T	NP_000052.1:p.Thr191=
NM_001287344.1:c.675G>T	NP_001274273.1:p.Thr225=
NM_001287344.2:c.675G>T	NP_001274273.1:p.Thr225=
NM_001287345.1:c.573G>T	NP_001274274.1:p.Thr191=
NM_001287345.2:c.573G>T	NP_001274274.1:p.Thr191=
ENST00000308731.7:c.573G>T	ENSP00000308176.7:p.Thr191=
ENST00000372880.5:c.573G>T	ENSP00000361971.1:p.Thr191=
ENST00000464006.2:n.353G>T
ENST00000478995.2:n.733G>T
ENST00000488970.2:n.731G>T
ENST00000618050.4:c.573G>T	ENSP00000479125.1:p.Thr191=
ENST00000621635.4:c.675G>T	ENSP00000483570.1:p.Thr225=
ENST00000695614.1:c.573G>T	ENSP00000512053.1:p.Thr191=
ENST00000695615.1:c.573G>T	ENSP00000512054.1:p.Thr191=
ENST00000695616.1:c.*418G>T	ENSP00000512055.1:n.*418G>T
ENST00000695617.1:c.570G>T	ENSP00000512056.1:p.Thr190=
ENST00000695618.1:c.*322G>T	ENSP00000512058.1:n.*322G>T
ENST00000695619.1:c.*418G>T	ENSP00000512059.1:n.*418G>T
ENST00000695620.1:c.*418G>T	ENSP00000512060.1:n.*418G>T
ENST00000695621.1:c.573G>T	ENSP00000512061.1:p.Thr191=
ENST00000695622.1:c.573G>T	ENSP00000512062.1:p.Thr191=
ENST00000695623.1:c.573G>T	ENSP00000512063.1:p.Thr191=
ENST00000695625.1:c.573G>T	ENSP00000512064.1:p.Thr191=
ENST00000703407.1:c.573G>T	ENSP00000512057.1:p.Thr191=