Canonical Allele Identifier: CA2448284590

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358672T= , CM000685.2:g.101358672T=	GRCh38
NC_000023.10:g.100613660T= , CM000685.1:g.100613660T=	GRCh37
NC_000023.9:g.100500316T=	NCBI36
NG_009616.1:g.32553A= , LRG_128:g.32553A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.699A=
ENST00000478995.2:n.1079A=
ENST00000488970.2:n.1077A=
ENST00000695614.1:c.919A=	ENSP00000512053.1:p.Arg307=
ENST00000695615.1:c.919A=	ENSP00000512054.1:p.Arg307=
ENST00000695616.1:c.*764A=	ENSP00000512055.1:n.*764A=
ENST00000695617.1:c.916A=	ENSP00000512056.1:p.Arg306=
ENST00000695618.1:c.*668A=	ENSP00000512058.1:n.*668A=
ENST00000695619.1:c.*685-235A=	ENSP00000512059.1:n.*685-235A=
ENST00000695620.1:c.*764A=	ENSP00000512060.1:n.*764A=
ENST00000695621.1:c.919A=	ENSP00000512061.1:p.Arg307=
ENST00000695622.1:c.856A=	ENSP00000512062.1:p.Arg286=
ENST00000695623.1:c.913A=	ENSP00000512063.1:p.Arg305=
ENST00000695624.1:n.224A=
ENST00000695625.1:c.919A=	ENSP00000512064.1:p.Arg307=
ENST00000703407.1:c.919A=	ENSP00000512057.1:p.Arg307=
ENST00000308731.8:c.919A= MANE Select	ENSP00000308176.8:p.Arg307=
ENST00000308731.7:c.919A=	ENSP00000308176.7:p.Arg307=
ENST00000372880.5:c.919A=	ENSP00000361971.1:p.Arg307=
ENST00000618050.4:c.919A=	ENSP00000479125.1:p.Arg307=
ENST00000621635.4:c.1021A=	ENSP00000483570.1:p.Arg341=
NM_000061.2:c.919A= , LRG_128t1:c.919A=	NP_000052.1:p.Arg307=
NM_001287344.1:c.1021A=	NP_001274273.1:p.Arg341=
NM_001287345.1:c.919A=	NP_001274274.1:p.Arg307=
NM_000061.3:c.919A= MANE Select	NP_000052.1:p.Arg307=
NM_001287344.2:c.1021A=	NP_001274273.1:p.Arg341=
NM_001287345.2:c.919A=	NP_001274274.1:p.Arg307=