Canonical Allele Identifier: CA2448284783

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359303A= , CM000685.2:g.101359303A=	GRCh38
NC_000023.10:g.100614291A= , CM000685.1:g.100614291A=	GRCh37
NC_000023.9:g.100500947A=	NCBI36
NG_009616.1:g.31922T= , LRG_128:g.31922T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.664T=
ENST00000478995.2:n.1044T=
ENST00000488970.2:n.1042T=
ENST00000695614.1:c.884T=	ENSP00000512053.1:p.Leu295=
ENST00000695615.1:c.884T=	ENSP00000512054.1:p.Leu295=
ENST00000695616.1:c.*729T=	ENSP00000512055.1:n.*729T=
ENST00000695617.1:c.881T=	ENSP00000512056.1:p.Leu294=
ENST00000695618.1:c.*633T=	ENSP00000512058.1:n.*633T=
ENST00000695619.1:c.*684+785T=	ENSP00000512059.1:n.*684+785T=
ENST00000695620.1:c.*729T=	ENSP00000512060.1:n.*729T=
ENST00000695621.1:c.884T=	ENSP00000512061.1:p.Leu295=
ENST00000695622.1:c.821T=	ENSP00000512062.1:p.Leu274=
ENST00000695623.1:c.878T=	ENSP00000512063.1:p.Leu293=
ENST00000695624.1:n.189T=
ENST00000695625.1:c.884T=	ENSP00000512064.1:p.Leu295=
ENST00000703407.1:c.884T=	ENSP00000512057.1:p.Leu295=
ENST00000308731.8:c.884T= MANE Select	ENSP00000308176.8:p.Leu295=
ENST00000308731.7:c.884T=	ENSP00000308176.7:p.Leu295=
ENST00000372880.5:c.884T=	ENSP00000361971.1:p.Leu295=
ENST00000618050.4:c.884T=	ENSP00000479125.1:p.Leu295=
ENST00000621635.4:c.986T=	ENSP00000483570.1:p.Leu329=
NM_000061.2:c.884T= , LRG_128t1:c.884T=	NP_000052.1:p.Leu295=
NM_001287344.1:c.986T=	NP_001274273.1:p.Leu329=
NM_001287345.1:c.884T=	NP_001274274.1:p.Leu295=
NM_000061.3:c.884T= MANE Select	NP_000052.1:p.Leu295=
NM_001287344.2:c.986T=	NP_001274273.1:p.Leu329=
NM_001287345.2:c.884T=	NP_001274274.1:p.Leu295=