Canonical Allele Identifier: CA2448283029

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353250T= , CM000685.2:g.101353250T=	GRCh38
NC_000023.10:g.100608238T= , CM000685.1:g.100608238T=	GRCh37
NC_000023.9:g.100494894T=	NCBI36
NG_009616.1:g.37975A= , LRG_128:g.37975A=
NG_011734.1:g.720A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3369A=
ENST00000488970.2:n.4008A=
ENST00000695614.1:c.1852A=	ENSP00000512053.1:p.Arg618=
ENST00000695615.1:c.1852A=	ENSP00000512054.1:p.Arg618=
ENST00000695616.1:c.*1697A=	ENSP00000512055.1:n.*1697A=
ENST00000695617.1:c.1849A=	ENSP00000512056.1:p.Arg617=
ENST00000695618.1:c.*1601A=	ENSP00000512058.1:n.*1601A=
ENST00000695619.1:c.*1562A=	ENSP00000512059.1:n.*1562A=
ENST00000695620.1:c.*1778A=	ENSP00000512060.1:n.*1778A=
ENST00000695621.1:c.*277A=	ENSP00000512061.1:n.*277A=
ENST00000695622.1:c.1789A=	ENSP00000512062.1:p.Arg597=
ENST00000695623.1:c.1846A=	ENSP00000512063.1:p.Arg616=
ENST00000695624.1:n.1157A=
ENST00000695625.1:c.1852A=	ENSP00000512064.1:p.Arg618=
ENST00000695626.1:c.607A=	ENSP00000512065.1:n.607A=
ENST00000695627.1:c.800A=	ENSP00000512066.1:n.800A=
ENST00000695628.1:c.411A=	ENSP00000512067.1:n.411A=
ENST00000695629.1:c.292A=	ENSP00000512068.1:p.Arg98=
ENST00000695630.1:c.579A=
ENST00000695631.1:c.115-2A=
ENST00000703407.1:c.1324A=	ENSP00000512057.1:p.Arg442=
ENST00000308731.8:c.1852A= MANE Select	ENSP00000308176.8:p.Arg618=
ENST00000308731.7:c.1852A=	ENSP00000308176.7:p.Arg618=
ENST00000372880.5:c.1324A=	ENSP00000361971.1:p.Arg442=
ENST00000470069.1:n.217A=
ENST00000618050.4:c.1851A=	ENSP00000479125.1:n.1851A=
ENST00000621635.4:c.1954A=	ENSP00000483570.1:p.Arg652=
NM_000061.2:c.1852A= , LRG_128t1:c.1852A=	NP_000052.1:p.Arg618=
NM_001287344.1:c.1954A=	NP_001274273.1:p.Arg652=
NM_001287345.1:c.1324A=	NP_001274274.1:p.Arg442=
NM_000061.3:c.1852A= MANE Select	NP_000052.1:p.Arg618=
NM_001287344.2:c.1954A=	NP_001274273.1:p.Arg652=
NM_001287345.2:c.1324A=	NP_001274274.1:p.Arg442=