Canonical Allele Identifier: CA2448288252

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101370051A= , CM000685.2:g.101370051A=	GRCh38
NC_000023.10:g.100625039A= , CM000685.1:g.100625039A=	GRCh37
NC_000023.9:g.100511695A=	NCBI36
NG_009616.1:g.21174T= , LRG_128:g.21174T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.498T=
ENST00000488970.2:n.496T=
ENST00000695614.1:c.338T=	ENSP00000512053.1:p.Val113=
ENST00000695615.1:c.338T=	ENSP00000512054.1:p.Val113=
ENST00000695616.1:c.*183T=	ENSP00000512055.1:n.*183T=
ENST00000695617.1:c.335T=	ENSP00000512056.1:p.Val112=
ENST00000695618.1:c.*87T=	ENSP00000512058.1:n.*87T=
ENST00000695619.1:c.*183T=	ENSP00000512059.1:n.*183T=
ENST00000695620.1:c.*183T=	ENSP00000512060.1:n.*183T=
ENST00000695621.1:c.338T=	ENSP00000512061.1:p.Val113=
ENST00000695622.1:c.338T=	ENSP00000512062.1:p.Val113=
ENST00000695623.1:c.338T=	ENSP00000512063.1:p.Val113=
ENST00000695625.1:c.338T=	ENSP00000512064.1:p.Val113=
ENST00000703407.1:c.338T=	ENSP00000512057.1:p.Val113=
ENST00000308731.8:c.338T= MANE Select	ENSP00000308176.8:p.Val113=
ENST00000308731.7:c.338T=	ENSP00000308176.7:p.Val113=
ENST00000372880.5:c.338T=	ENSP00000361971.1:p.Val113=
ENST00000618050.4:c.338T=	ENSP00000479125.1:p.Val113=
ENST00000621635.4:c.440T=	ENSP00000483570.1:p.Val147=
NM_000061.2:c.338T= , LRG_128t1:c.338T=	NP_000052.1:p.Val113=
NM_001287344.1:c.440T=	NP_001274273.1:p.Val147=
NM_001287345.1:c.338T=	NP_001274274.1:p.Val113=
NM_000061.3:c.338T= MANE Select	NP_000052.1:p.Val113=
NM_001287344.2:c.440T=	NP_001274273.1:p.Val147=
NM_001287345.2:c.338T=	NP_001274274.1:p.Val113=