Canonical Allele Identifier: CA2448283022

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353220T= , CM000685.2:g.101353220T=	GRCh38
NC_000023.10:g.100608208T= , CM000685.1:g.100608208T=	GRCh37
NC_000023.9:g.100494864T=	NCBI36
NG_009616.1:g.38005A= , LRG_128:g.38005A=
NG_011734.1:g.750A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3399A=
ENST00000488970.2:n.4038A=
ENST00000695614.1:c.1882A=	ENSP00000512053.1:p.Thr628=
ENST00000695615.1:c.1882A=	ENSP00000512054.1:p.Thr628=
ENST00000695616.1:c.*1727A=	ENSP00000512055.1:n.*1727A=
ENST00000695617.1:c.1879A=	ENSP00000512056.1:p.Thr627=
ENST00000695618.1:c.*1631A=	ENSP00000512058.1:n.*1631A=
ENST00000695619.1:c.*1592A=	ENSP00000512059.1:n.*1592A=
ENST00000695620.1:c.*1808A=	ENSP00000512060.1:n.*1808A=
ENST00000695621.1:c.*307A=	ENSP00000512061.1:n.*307A=
ENST00000695622.1:c.1819A=	ENSP00000512062.1:p.Thr607=
ENST00000695623.1:c.1876A=	ENSP00000512063.1:p.Thr626=
ENST00000695624.1:n.1187A=
ENST00000695625.1:c.1875+7A=	ENSP00000512064.1:n.1875+7A=
ENST00000695626.1:c.637A=	ENSP00000512065.1:n.637A=
ENST00000695627.1:c.830A=	ENSP00000512066.1:n.830A=
ENST00000695628.1:c.441A=	ENSP00000512067.1:n.441A=
ENST00000695629.1:c.322A=	ENSP00000512068.1:p.Thr108=
ENST00000695630.1:c.609A=
ENST00000695631.1:c.143A=
ENST00000703407.1:c.1354A=	ENSP00000512057.1:p.Thr452=
ENST00000308731.8:c.1882A= MANE Select	ENSP00000308176.8:p.Thr628=
ENST00000308731.7:c.1882A=	ENSP00000308176.7:p.Thr628=
ENST00000372880.5:c.1354A=	ENSP00000361971.1:p.Thr452=
ENST00000470069.1:n.247A=
ENST00000618050.4:c.1881A=	ENSP00000479125.1:n.1881A=
ENST00000621635.4:c.1984A=	ENSP00000483570.1:p.Thr662=
NM_000061.2:c.1882A= , LRG_128t1:c.1882A=	NP_000052.1:p.Thr628=
NM_001287344.1:c.1984A=	NP_001274273.1:p.Thr662=
NM_001287345.1:c.1354A=	NP_001274274.1:p.Thr452=
NM_000061.3:c.1882A= MANE Select	NP_000052.1:p.Thr628=
NM_001287344.2:c.1984A=	NP_001274273.1:p.Thr662=
NM_001287345.2:c.1354A=	NP_001274274.1:p.Thr452=