Canonical Allele Identifier: CA2448283023

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353226C= , CM000685.2:g.101353226C=	GRCh38
NC_000023.10:g.100608214C= , CM000685.1:g.100608214C=	GRCh37
NC_000023.9:g.100494870C=	NCBI36
NG_009616.1:g.37999G= , LRG_128:g.37999G=
NG_011734.1:g.744G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3393G=
ENST00000488970.2:n.4032G=
ENST00000695614.1:c.1876G=	ENSP00000512053.1:p.Val626=
ENST00000695615.1:c.1876G=	ENSP00000512054.1:p.Val626=
ENST00000695616.1:c.*1721G=	ENSP00000512055.1:n.*1721G=
ENST00000695617.1:c.1873G=	ENSP00000512056.1:p.Val625=
ENST00000695618.1:c.*1625G=	ENSP00000512058.1:n.*1625G=
ENST00000695619.1:c.*1586G=	ENSP00000512059.1:n.*1586G=
ENST00000695620.1:c.*1802G=	ENSP00000512060.1:n.*1802G=
ENST00000695621.1:c.*301G=	ENSP00000512061.1:n.*301G=
ENST00000695622.1:c.1813G=	ENSP00000512062.1:p.Val605=
ENST00000695623.1:c.1870G=	ENSP00000512063.1:p.Val624=
ENST00000695624.1:n.1181G=
ENST00000695625.1:c.1875+1G=	ENSP00000512064.1:n.1875+1G=
ENST00000695626.1:c.631G=	ENSP00000512065.1:n.631G=
ENST00000695627.1:c.824G=	ENSP00000512066.1:n.824G=
ENST00000695628.1:c.435G=	ENSP00000512067.1:n.435G=
ENST00000695629.1:c.316G=	ENSP00000512068.1:p.Val106=
ENST00000695630.1:c.603G=
ENST00000695631.1:c.137G=
ENST00000703407.1:c.1348G=	ENSP00000512057.1:p.Val450=
ENST00000308731.8:c.1876G= MANE Select	ENSP00000308176.8:p.Val626=
ENST00000308731.7:c.1876G=	ENSP00000308176.7:p.Val626=
ENST00000372880.5:c.1348G=	ENSP00000361971.1:p.Val450=
ENST00000470069.1:n.241G=
ENST00000618050.4:c.1875G=	ENSP00000479125.1:n.1875G=
ENST00000621635.4:c.1978G=	ENSP00000483570.1:p.Val660=
NM_000061.2:c.1876G= , LRG_128t1:c.1876G=	NP_000052.1:p.Val626=
NM_001287344.1:c.1978G=	NP_001274273.1:p.Val660=
NM_001287345.1:c.1348G=	NP_001274274.1:p.Val450=
NM_000061.3:c.1876G= MANE Select	NP_000052.1:p.Val626=
NM_001287344.2:c.1978G=	NP_001274273.1:p.Val660=
NM_001287345.2:c.1348G=	NP_001274274.1:p.Val450=