Canonical Allele Identifier: CA2448283020

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353217T= , CM000685.2:g.101353217T=	GRCh38
NC_000023.10:g.100608205T= , CM000685.1:g.100608205T=	GRCh37
NC_000023.9:g.100494861T=	NCBI36
NG_009616.1:g.38008A= , LRG_128:g.38008A=
NG_011734.1:g.753A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3402A=
ENST00000488970.2:n.4041A=
ENST00000695614.1:c.1885A=	ENSP00000512053.1:p.Ile629=
ENST00000695615.1:c.1885A=	ENSP00000512054.1:p.Ile629=
ENST00000695616.1:c.*1730A=	ENSP00000512055.1:n.*1730A=
ENST00000695617.1:c.1882A=	ENSP00000512056.1:p.Ile628=
ENST00000695618.1:c.*1634A=	ENSP00000512058.1:n.*1634A=
ENST00000695619.1:c.*1595A=	ENSP00000512059.1:n.*1595A=
ENST00000695620.1:c.*1811A=	ENSP00000512060.1:n.*1811A=
ENST00000695621.1:c.*310A=	ENSP00000512061.1:n.*310A=
ENST00000695622.1:c.1822A=	ENSP00000512062.1:p.Ile608=
ENST00000695623.1:c.1879A=	ENSP00000512063.1:p.Ile627=
ENST00000695624.1:n.1190A=
ENST00000695625.1:c.1875+10A=	ENSP00000512064.1:n.1875+10A=
ENST00000695626.1:c.640A=	ENSP00000512065.1:n.640A=
ENST00000695627.1:c.833A=	ENSP00000512066.1:n.833A=
ENST00000695628.1:c.444A=	ENSP00000512067.1:n.444A=
ENST00000695629.1:c.325A=	ENSP00000512068.1:p.Ile109=
ENST00000695630.1:c.612A=
ENST00000695631.1:c.146A=
ENST00000703407.1:c.1357A=	ENSP00000512057.1:p.Ile453=
ENST00000308731.8:c.1885A= MANE Select	ENSP00000308176.8:p.Ile629=
ENST00000308731.7:c.1885A=	ENSP00000308176.7:p.Ile629=
ENST00000372880.5:c.1357A=	ENSP00000361971.1:p.Ile453=
ENST00000470069.1:n.250A=
ENST00000618050.4:c.1884A=	ENSP00000479125.1:n.1884A=
ENST00000621635.4:c.1987A=	ENSP00000483570.1:p.Ile663=
NM_000061.2:c.1885A= , LRG_128t1:c.1885A=	NP_000052.1:p.Ile629=
NM_001287344.1:c.1987A=	NP_001274273.1:p.Ile663=
NM_001287345.1:c.1357A=	NP_001274274.1:p.Ile453=
NM_000061.3:c.1885A= MANE Select	NP_000052.1:p.Ile629=
NM_001287344.2:c.1987A=	NP_001274273.1:p.Ile663=
NM_001287345.2:c.1357A=	NP_001274274.1:p.Ile453=