Canonical Allele Identifier: CA2448283014

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353196C= , CM000685.2:g.101353196C=	GRCh38
NC_000023.10:g.100608184C= , CM000685.1:g.100608184C=	GRCh37
NC_000023.9:g.100494840C=	NCBI36
NG_009616.1:g.38029G= , LRG_128:g.38029G=
NG_011734.1:g.774G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3423G=
ENST00000488970.2:n.4062G=
ENST00000695614.1:c.1906G=	ENSP00000512053.1:p.Glu636=
ENST00000695615.1:c.1906G=	ENSP00000512054.1:p.Glu636=
ENST00000695616.1:c.*1751G=	ENSP00000512055.1:n.*1751G=
ENST00000695617.1:c.1903G=	ENSP00000512056.1:p.Glu635=
ENST00000695618.1:c.*1655G=	ENSP00000512058.1:n.*1655G=
ENST00000695619.1:c.*1616G=	ENSP00000512059.1:n.*1616G=
ENST00000695620.1:c.*1832G=	ENSP00000512060.1:n.*1832G=
ENST00000695621.1:c.*331G=	ENSP00000512061.1:n.*331G=
ENST00000695622.1:c.1843G=	ENSP00000512062.1:p.Glu615=
ENST00000695623.1:c.1900G=	ENSP00000512063.1:p.Glu634=
ENST00000695624.1:n.1211G=
ENST00000695625.1:c.1875+31G=	ENSP00000512064.1:n.1875+31G=
ENST00000695626.1:c.661G=	ENSP00000512065.1:n.661G=
ENST00000695627.1:c.854G=	ENSP00000512066.1:n.854G=
ENST00000695628.1:c.465G=	ENSP00000512067.1:n.465G=
ENST00000695629.1:c.346G=	ENSP00000512068.1:p.Glu116=
ENST00000695630.1:c.633G=
ENST00000695631.1:c.167G=
ENST00000703407.1:c.1378G=	ENSP00000512057.1:p.Glu460=
ENST00000308731.8:c.1906G= MANE Select	ENSP00000308176.8:p.Glu636=
ENST00000308731.7:c.1906G=	ENSP00000308176.7:p.Glu636=
ENST00000372880.5:c.1378G=	ENSP00000361971.1:p.Glu460=
ENST00000470069.1:n.271G=
ENST00000618050.4:c.1905G=	ENSP00000479125.1:n.1905G=
ENST00000621635.4:c.2008G=	ENSP00000483570.1:p.Glu670=
NM_000061.2:c.1906G= , LRG_128t1:c.1906G=	NP_000052.1:p.Glu636=
NM_001287344.1:c.2008G=	NP_001274273.1:p.Glu670=
NM_001287345.1:c.1378G=	NP_001274274.1:p.Glu460=
NM_000061.3:c.1906G= MANE Select	NP_000052.1:p.Glu636=
NM_001287344.2:c.2008G=	NP_001274273.1:p.Glu670=
NM_001287345.2:c.1378G=	NP_001274274.1:p.Glu460=