Canonical Allele Identifier: CA2448283062

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353351C= , CM000685.2:g.101353351C=	GRCh38
NC_000023.10:g.100608339C= , CM000685.1:g.100608339C=	GRCh37
NC_000023.9:g.100494995C=	NCBI36
NG_009616.1:g.37874G= , LRG_128:g.37874G=
NG_011734.1:g.619G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268G=
ENST00000488970.2:n.3907G=
ENST00000695614.1:c.1751G=	ENSP00000512053.1:p.Gly584=
ENST00000695615.1:c.1751G=	ENSP00000512054.1:p.Gly584=
ENST00000695616.1:c.*1596G=	ENSP00000512055.1:n.*1596G=
ENST00000695617.1:c.1748G=	ENSP00000512056.1:p.Gly583=
ENST00000695618.1:c.*1500G=	ENSP00000512058.1:n.*1500G=
ENST00000695619.1:c.*1461G=	ENSP00000512059.1:n.*1461G=
ENST00000695620.1:c.*1677G=	ENSP00000512060.1:n.*1677G=
ENST00000695621.1:c.*176G=	ENSP00000512061.1:n.*176G=
ENST00000695622.1:c.1688G=	ENSP00000512062.1:p.Gly563=
ENST00000695623.1:c.1745G=	ENSP00000512063.1:p.Gly582=
ENST00000695624.1:n.1056G=
ENST00000695625.1:c.1751G=	ENSP00000512064.1:p.Gly584=
ENST00000695626.1:c.506G=	ENSP00000512065.1:n.506G=
ENST00000695627.1:c.699G=	ENSP00000512066.1:n.699G=
ENST00000695628.1:c.310G=	ENSP00000512067.1:n.310G=
ENST00000695629.1:c.191G=	ENSP00000512068.1:p.Gly64=
ENST00000695630.1:c.478G=
ENST00000695631.1:c.115-103G=
ENST00000703407.1:c.1223G=	ENSP00000512057.1:p.Gly408=
ENST00000308731.8:c.1751G= MANE Select	ENSP00000308176.8:p.Gly584=
ENST00000308731.7:c.1751G=	ENSP00000308176.7:p.Gly584=
ENST00000372880.5:c.1223G=	ENSP00000361971.1:p.Gly408=
ENST00000470069.1:n.116G=
ENST00000488970.1:n.353G=
ENST00000618050.4:c.1750G=	ENSP00000479125.1:n.1750G=
ENST00000621635.4:c.1853G=	ENSP00000483570.1:p.Gly618=
NM_000061.2:c.1751G= , LRG_128t1:c.1751G=	NP_000052.1:p.Gly584=
NM_001287344.1:c.1853G=	NP_001274273.1:p.Gly618=
NM_001287345.1:c.1223G=	NP_001274274.1:p.Gly408=
NM_000061.3:c.1751G= MANE Select	NP_000052.1:p.Gly584=
NM_001287344.2:c.1853G=	NP_001274273.1:p.Gly618=
NM_001287345.2:c.1223G=	NP_001274274.1:p.Gly408=