Canonical Allele Identifier: CA2448284515

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358348A= , CM000685.2:g.101358348A=	GRCh38
NC_000023.10:g.100613336A= , CM000685.1:g.100613336A=	GRCh37
NC_000023.9:g.100499992A=	NCBI36
NG_009616.1:g.32877T= , LRG_128:g.32877T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1064T= MANE Select	NP_000052.1:p.Ile355=
ENST00000308731.8:c.1064T= MANE Select	ENSP00000308176.8:p.Ile355=
NM_000061.2:c.1064T= , LRG_128t1:c.1064T=	NP_000052.1:p.Ile355=
NM_001287344.1:c.1166T=	NP_001274273.1:p.Ile389=
NM_001287344.2:c.1166T=	NP_001274273.1:p.Ile389=
NM_001287345.1:c.1038+26T=	NP_001274274.1:n.1038+26T=
NM_001287345.2:c.1038+26T=	NP_001274274.1:n.1038+26T=
ENST00000308731.7:c.1064T=	ENSP00000308176.7:p.Ile355=
ENST00000372880.5:c.1038+26T=	ENSP00000361971.1:n.1038+26T=
ENST00000470329.1:n.14T=
ENST00000478995.2:n.1224T=
ENST00000488970.2:n.1222T=
ENST00000618050.4:c.1064T=	ENSP00000479125.1:p.Ile355=
ENST00000621635.4:c.1166T=	ENSP00000483570.1:p.Ile389=
ENST00000695614.1:c.1064T=	ENSP00000512053.1:p.Ile355=
ENST00000695615.1:c.1064T=	ENSP00000512054.1:p.Ile355=
ENST00000695616.1:c.*909T=	ENSP00000512055.1:n.*909T=
ENST00000695617.1:c.1061T=	ENSP00000512056.1:p.Ile354=
ENST00000695618.1:c.*813T=	ENSP00000512058.1:n.*813T=
ENST00000695619.1:c.*774T=	ENSP00000512059.1:n.*774T=
ENST00000695620.1:c.*909T=	ENSP00000512060.1:n.*909T=
ENST00000695621.1:c.1064T=	ENSP00000512061.1:p.Ile355=
ENST00000695622.1:c.1001T=	ENSP00000512062.1:p.Ile334=
ENST00000695623.1:c.1058T=	ENSP00000512063.1:p.Ile353=
ENST00000695624.1:n.369T=
ENST00000695625.1:c.1064T=	ENSP00000512064.1:p.Ile355=
ENST00000695626.1:c.77T=	ENSP00000512065.1:p.Ile26=
ENST00000695627.1:c.77T=	ENSP00000512066.1:p.Ile26=
ENST00000695628.1:c.77T=	ENSP00000512067.1:p.Ile26=
ENST00000695629.1:c.77T=	ENSP00000512068.1:p.Ile26=
ENST00000695630.1:c.73T=
ENST00000695631.1:c.76T=
ENST00000695632.1:n.81T=
ENST00000703407.1:c.1038+26T=	ENSP00000512057.1:n.1038+26T=