Canonical Allele Identifier: CA2448285155

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360589C= , CM000685.2:g.101360589C=	GRCh38
NC_000023.10:g.100615577C= , CM000685.1:g.100615577C=	GRCh37
NC_000023.9:g.100502233C=	NCBI36
NG_009616.1:g.30636G= , LRG_128:g.30636G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.755G= MANE Select	NP_000052.1:p.Trp252=
ENST00000308731.8:c.755G= MANE Select	ENSP00000308176.8:p.Trp252=
NM_000061.2:c.755G= , LRG_128t1:c.755G=	NP_000052.1:p.Trp252=
NM_001287344.1:c.857G=	NP_001274273.1:p.Trp286=
NM_001287344.2:c.857G=	NP_001274273.1:p.Trp286=
NM_001287345.1:c.755G=	NP_001274274.1:p.Trp252=
NM_001287345.2:c.755G=	NP_001274274.1:p.Trp252=
ENST00000308731.7:c.755G=	ENSP00000308176.7:p.Trp252=
ENST00000372880.5:c.755G=	ENSP00000361971.1:p.Trp252=
ENST00000464006.2:n.535G=
ENST00000478995.2:n.915G=
ENST00000488970.2:n.913G=
ENST00000618050.4:c.755G=	ENSP00000479125.1:p.Trp252=
ENST00000621635.4:c.857G=	ENSP00000483570.1:p.Trp286=
ENST00000695614.1:c.755G=	ENSP00000512053.1:p.Trp252=
ENST00000695615.1:c.755G=	ENSP00000512054.1:p.Trp252=
ENST00000695616.1:c.*600G=	ENSP00000512055.1:n.*600G=
ENST00000695617.1:c.752G=	ENSP00000512056.1:p.Trp251=
ENST00000695618.1:c.*504G=	ENSP00000512058.1:n.*504G=
ENST00000695619.1:c.*600G=	ENSP00000512059.1:n.*600G=
ENST00000695620.1:c.*600G=	ENSP00000512060.1:n.*600G=
ENST00000695621.1:c.755G=	ENSP00000512061.1:p.Trp252=
ENST00000695622.1:c.755G=	ENSP00000512062.1:p.Trp252=
ENST00000695623.1:c.755G=	ENSP00000512063.1:p.Trp252=
ENST00000695625.1:c.755G=	ENSP00000512064.1:p.Trp252=
ENST00000703407.1:c.755G=	ENSP00000512057.1:p.Trp252=