Canonical Allele Identifier: CA2448283234

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353956A= , CM000685.2:g.101353956A=	GRCh38
NC_000023.10:g.100608944A= , CM000685.1:g.100608944A=	GRCh37
NC_000023.9:g.100495600A=	NCBI36
NG_009616.1:g.37269T= , LRG_128:g.37269T=
NG_011734.1:g.14T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3181T=
ENST00000488970.2:n.3820T=
ENST00000695614.1:c.1664T=	ENSP00000512053.1:p.Val555=
ENST00000695615.1:c.1664T=	ENSP00000512054.1:p.Val555=
ENST00000695616.1:c.*1509T=	ENSP00000512055.1:n.*1509T=
ENST00000695617.1:c.1661T=	ENSP00000512056.1:p.Val554=
ENST00000695618.1:c.*1413T=	ENSP00000512058.1:n.*1413T=
ENST00000695619.1:c.*1374T=	ENSP00000512059.1:n.*1374T=
ENST00000695620.1:c.*1590T=	ENSP00000512060.1:n.*1590T=
ENST00000695621.1:c.*89T=	ENSP00000512061.1:n.*89T=
ENST00000695622.1:c.1601T=	ENSP00000512062.1:p.Val534=
ENST00000695623.1:c.1658T=	ENSP00000512063.1:p.Val553=
ENST00000695624.1:n.969T=
ENST00000695625.1:c.1664T=	ENSP00000512064.1:p.Val555=
ENST00000695626.1:c.419T=	ENSP00000512065.1:n.419T=
ENST00000695627.1:c.612T=	ENSP00000512066.1:n.612T=
ENST00000695628.1:c.223T=	ENSP00000512067.1:p.Ter75=
ENST00000695629.1:c.191-605T=	ENSP00000512068.1:n.191-605T=
ENST00000695630.1:c.391T=
ENST00000695631.1:c.115-708T=
ENST00000695632.1:n.464T=
ENST00000703407.1:c.1136T=	ENSP00000512057.1:p.Val379=
ENST00000308731.8:c.1664T= MANE Select	ENSP00000308176.8:p.Val555=
ENST00000308731.7:c.1664T=	ENSP00000308176.7:p.Val555=
ENST00000372880.5:c.1136T=	ENSP00000361971.1:p.Val379=
ENST00000470069.1:n.29T=
ENST00000488970.1:n.266T=
ENST00000618050.4:c.1664T=	ENSP00000479125.1:p.Val555=
ENST00000621635.4:c.1766T=	ENSP00000483570.1:p.Val589=
NM_000061.2:c.1664T= , LRG_128t1:c.1664T=	NP_000052.1:p.Val555=
NM_001287344.1:c.1766T=	NP_001274273.1:p.Val589=
NM_001287345.1:c.1136T=	NP_001274274.1:p.Val379=
NM_000061.3:c.1664T= MANE Select	NP_000052.1:p.Val555=
NM_001287344.2:c.1766T=	NP_001274273.1:p.Val589=
NM_001287345.2:c.1136T=	NP_001274274.1:p.Val379=