Canonical Allele Identifier: CA2448283054

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353337C= , CM000685.2:g.101353337C=	GRCh38
NC_000023.10:g.100608325C= , CM000685.1:g.100608325C=	GRCh37
NC_000023.9:g.100494981C=	NCBI36
NG_009616.1:g.37888G= , LRG_128:g.37888G=
NG_011734.1:g.633G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3282G=
ENST00000488970.2:n.3921G=
ENST00000695614.1:c.1765G=	ENSP00000512053.1:p.Glu589=
ENST00000695615.1:c.1765G=	ENSP00000512054.1:p.Glu589=
ENST00000695616.1:c.*1610G=	ENSP00000512055.1:n.*1610G=
ENST00000695617.1:c.1762G=	ENSP00000512056.1:p.Glu588=
ENST00000695618.1:c.*1514G=	ENSP00000512058.1:n.*1514G=
ENST00000695619.1:c.*1475G=	ENSP00000512059.1:n.*1475G=
ENST00000695620.1:c.*1691G=	ENSP00000512060.1:n.*1691G=
ENST00000695621.1:c.*190G=	ENSP00000512061.1:n.*190G=
ENST00000695622.1:c.1702G=	ENSP00000512062.1:p.Glu568=
ENST00000695623.1:c.1759G=	ENSP00000512063.1:p.Glu587=
ENST00000695624.1:n.1070G=
ENST00000695625.1:c.1765G=	ENSP00000512064.1:p.Glu589=
ENST00000695626.1:c.520G=	ENSP00000512065.1:n.520G=
ENST00000695627.1:c.713G=	ENSP00000512066.1:n.713G=
ENST00000695628.1:c.324G=	ENSP00000512067.1:n.324G=
ENST00000695629.1:c.205G=	ENSP00000512068.1:p.Glu69=
ENST00000695630.1:c.492G=
ENST00000695631.1:c.115-89G=
ENST00000703407.1:c.1237G=	ENSP00000512057.1:p.Glu413=
ENST00000308731.8:c.1765G= MANE Select	ENSP00000308176.8:p.Glu589=
ENST00000308731.7:c.1765G=	ENSP00000308176.7:p.Glu589=
ENST00000372880.5:c.1237G=	ENSP00000361971.1:p.Glu413=
ENST00000470069.1:n.130G=
ENST00000488970.1:n.367G=
ENST00000618050.4:c.1764G=	ENSP00000479125.1:n.1764G=
ENST00000621635.4:c.1867G=	ENSP00000483570.1:p.Glu623=
NM_000061.2:c.1765G= , LRG_128t1:c.1765G=	NP_000052.1:p.Glu589=
NM_001287344.1:c.1867G=	NP_001274273.1:p.Glu623=
NM_001287345.1:c.1237G=	NP_001274274.1:p.Glu413=
NM_000061.3:c.1765G= MANE Select	NP_000052.1:p.Glu589=
NM_001287344.2:c.1867G=	NP_001274273.1:p.Glu623=
NM_001287345.2:c.1237G=	NP_001274274.1:p.Glu413=