Canonical Allele Identifier: CA2448284100

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357567G= , CM000685.2:g.101357567G=	GRCh38
NC_000023.10:g.100612555G= , CM000685.1:g.100612555G=	GRCh37
NC_000023.9:g.100499211G=	NCBI36
NG_009616.1:g.33658C= , LRG_128:g.33658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1279C=
ENST00000488970.2:n.1277C=
ENST00000695614.1:c.1119C=	ENSP00000512053.1:p.Leu373=
ENST00000695615.1:c.1119C=	ENSP00000512054.1:p.Leu373=
ENST00000695616.1:c.*964C=	ENSP00000512055.1:n.*964C=
ENST00000695617.1:c.1116C=	ENSP00000512056.1:p.Leu372=
ENST00000695618.1:c.*868C=	ENSP00000512058.1:n.*868C=
ENST00000695619.1:c.*829C=	ENSP00000512059.1:n.*829C=
ENST00000695620.1:c.*964C=	ENSP00000512060.1:n.*964C=
ENST00000695621.1:c.1119C=	ENSP00000512061.1:p.Leu373=
ENST00000695622.1:c.1056C=	ENSP00000512062.1:p.Leu352=
ENST00000695623.1:c.1113C=	ENSP00000512063.1:p.Leu371=
ENST00000695624.1:n.424C=
ENST00000695625.1:c.1119C=	ENSP00000512064.1:p.Leu373=
ENST00000695626.1:c.132C=	ENSP00000512065.1:p.Leu44=
ENST00000695627.1:c.132C=	ENSP00000512066.1:p.Leu44=
ENST00000695628.1:c.132C=	ENSP00000512067.1:p.Leu44=
ENST00000695629.1:c.132C=	ENSP00000512068.1:p.Leu44=
ENST00000695630.1:c.128C=
ENST00000695631.1:c.114+743C=
ENST00000695632.1:n.136C=
ENST00000703407.1:c.1038+807C=	ENSP00000512057.1:n.1038+807C=
ENST00000308731.8:c.1119C= MANE Select	ENSP00000308176.8:p.Leu373=
ENST00000308731.7:c.1119C=	ENSP00000308176.7:p.Leu373=
ENST00000372880.5:c.1038+807C=	ENSP00000361971.1:n.1038+807C=
ENST00000470329.1:n.69C=
ENST00000618050.4:c.1119C=	ENSP00000479125.1:p.Leu373=
ENST00000621635.4:c.1221C=	ENSP00000483570.1:p.Leu407=
NM_000061.2:c.1119C= , LRG_128t1:c.1119C=	NP_000052.1:p.Leu373=
NM_001287344.1:c.1221C=	NP_001274273.1:p.Leu407=
NM_001287345.1:c.1038+807C=	NP_001274274.1:n.1038+807C=
NM_000061.3:c.1119C= MANE Select	NP_000052.1:p.Leu373=
NM_001287344.2:c.1221C=	NP_001274273.1:p.Leu407=
NM_001287345.2:c.1038+807C=	NP_001274274.1:n.1038+807C=