Canonical Allele Identifier: CA2448283049

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353327G= , CM000685.2:g.101353327G=	GRCh38
NC_000023.10:g.100608315G= , CM000685.1:g.100608315G=	GRCh37
NC_000023.9:g.100494971G=	NCBI36
NG_009616.1:g.37898C= , LRG_128:g.37898C=
NG_011734.1:g.643C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3292C=
ENST00000488970.2:n.3931C=
ENST00000695614.1:c.1775C=	ENSP00000512053.1:p.Ser592=
ENST00000695615.1:c.1775C=	ENSP00000512054.1:p.Ser592=
ENST00000695616.1:c.*1620C=	ENSP00000512055.1:n.*1620C=
ENST00000695617.1:c.1772C=	ENSP00000512056.1:p.Ser591=
ENST00000695618.1:c.*1524C=	ENSP00000512058.1:n.*1524C=
ENST00000695619.1:c.*1485C=	ENSP00000512059.1:n.*1485C=
ENST00000695620.1:c.*1701C=	ENSP00000512060.1:n.*1701C=
ENST00000695621.1:c.*200C=	ENSP00000512061.1:n.*200C=
ENST00000695622.1:c.1712C=	ENSP00000512062.1:p.Ser571=
ENST00000695623.1:c.1769C=	ENSP00000512063.1:p.Ser590=
ENST00000695624.1:n.1080C=
ENST00000695625.1:c.1775C=	ENSP00000512064.1:p.Ser592=
ENST00000695626.1:c.530C=	ENSP00000512065.1:n.530C=
ENST00000695627.1:c.723C=	ENSP00000512066.1:n.723C=
ENST00000695628.1:c.334C=	ENSP00000512067.1:n.334C=
ENST00000695629.1:c.215C=	ENSP00000512068.1:p.Ser72=
ENST00000695630.1:c.502C=
ENST00000695631.1:c.115-79C=
ENST00000703407.1:c.1247C=	ENSP00000512057.1:p.Ser416=
ENST00000308731.8:c.1775C= MANE Select	ENSP00000308176.8:p.Ser592=
ENST00000308731.7:c.1775C=	ENSP00000308176.7:p.Ser592=
ENST00000372880.5:c.1247C=	ENSP00000361971.1:p.Ser416=
ENST00000470069.1:n.140C=
ENST00000488970.1:n.377C=
ENST00000618050.4:c.1774C=	ENSP00000479125.1:n.1774C=
ENST00000621635.4:c.1877C=	ENSP00000483570.1:p.Ser626=
NM_000061.2:c.1775C= , LRG_128t1:c.1775C=	NP_000052.1:p.Ser592=
NM_001287344.1:c.1877C=	NP_001274273.1:p.Ser626=
NM_001287345.1:c.1247C=	NP_001274274.1:p.Ser416=
NM_000061.3:c.1775C= MANE Select	NP_000052.1:p.Ser592=
NM_001287344.2:c.1877C=	NP_001274273.1:p.Ser626=
NM_001287345.2:c.1247C=	NP_001274274.1:p.Ser416=