Canonical Allele Identifier: CA2448283021

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353218G= , CM000685.2:g.101353218G=	GRCh38
NC_000023.10:g.100608206G= , CM000685.1:g.100608206G=	GRCh37
NC_000023.9:g.100494862G=	NCBI36
NG_009616.1:g.38007C= , LRG_128:g.38007C=
NG_011734.1:g.752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3401C=
ENST00000488970.2:n.4040C=
ENST00000695614.1:c.1884C=	ENSP00000512053.1:p.Thr628=
ENST00000695615.1:c.1884C=	ENSP00000512054.1:p.Thr628=
ENST00000695616.1:c.*1729C=	ENSP00000512055.1:n.*1729C=
ENST00000695617.1:c.1881C=	ENSP00000512056.1:p.Thr627=
ENST00000695618.1:c.*1633C=	ENSP00000512058.1:n.*1633C=
ENST00000695619.1:c.*1594C=	ENSP00000512059.1:n.*1594C=
ENST00000695620.1:c.*1810C=	ENSP00000512060.1:n.*1810C=
ENST00000695621.1:c.*309C=	ENSP00000512061.1:n.*309C=
ENST00000695622.1:c.1821C=	ENSP00000512062.1:p.Thr607=
ENST00000695623.1:c.1878C=	ENSP00000512063.1:p.Thr626=
ENST00000695624.1:n.1189C=
ENST00000695625.1:c.1875+9C=	ENSP00000512064.1:n.1875+9C=
ENST00000695626.1:c.639C=	ENSP00000512065.1:n.639C=
ENST00000695627.1:c.832C=	ENSP00000512066.1:n.832C=
ENST00000695628.1:c.443C=	ENSP00000512067.1:n.443C=
ENST00000695629.1:c.324C=	ENSP00000512068.1:p.Thr108=
ENST00000695630.1:c.611C=
ENST00000695631.1:c.145C=
ENST00000703407.1:c.1356C=	ENSP00000512057.1:p.Thr452=
ENST00000308731.8:c.1884C= MANE Select	ENSP00000308176.8:p.Thr628=
ENST00000308731.7:c.1884C=	ENSP00000308176.7:p.Thr628=
ENST00000372880.5:c.1356C=	ENSP00000361971.1:p.Thr452=
ENST00000470069.1:n.249C=
ENST00000618050.4:c.1883C=	ENSP00000479125.1:n.1883C=
ENST00000621635.4:c.1986C=	ENSP00000483570.1:p.Thr662=
NM_000061.2:c.1884C= , LRG_128t1:c.1884C=	NP_000052.1:p.Thr628=
NM_001287344.1:c.1986C=	NP_001274273.1:p.Thr662=
NM_001287345.1:c.1356C=	NP_001274274.1:p.Thr452=
NM_000061.3:c.1884C= MANE Select	NP_000052.1:p.Thr628=
NM_001287344.2:c.1986C=	NP_001274273.1:p.Thr662=
NM_001287345.2:c.1356C=	NP_001274274.1:p.Thr452=