Canonical Allele Identifier: CA2448283212

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353883G= , CM000685.2:g.101353883G=	GRCh38
NC_000023.10:g.100608871G= , CM000685.1:g.100608871G=	GRCh37
NC_000023.9:g.100495527G=	NCBI36
NG_009616.1:g.37342C= , LRG_128:g.37342C=
NG_011734.1:g.87C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3254C=
ENST00000488970.2:n.3893C=
ENST00000695614.1:c.1737C=	ENSP00000512053.1:p.Asp579=
ENST00000695615.1:c.1737C=	ENSP00000512054.1:p.Asp579=
ENST00000695616.1:c.*1582C=	ENSP00000512055.1:n.*1582C=
ENST00000695617.1:c.1734C=	ENSP00000512056.1:p.Asp578=
ENST00000695618.1:c.*1486C=	ENSP00000512058.1:n.*1486C=
ENST00000695619.1:c.*1447C=	ENSP00000512059.1:n.*1447C=
ENST00000695620.1:c.*1663C=	ENSP00000512060.1:n.*1663C=
ENST00000695621.1:c.*162C=	ENSP00000512061.1:n.*162C=
ENST00000695622.1:c.1674C=	ENSP00000512062.1:p.Asp558=
ENST00000695623.1:c.1731C=	ENSP00000512063.1:p.Asp577=
ENST00000695624.1:n.1042C=
ENST00000695625.1:c.1737C=	ENSP00000512064.1:p.Asp579=
ENST00000695626.1:c.492C=	ENSP00000512065.1:n.492C=
ENST00000695627.1:c.685C=	ENSP00000512066.1:n.685C=
ENST00000695628.1:c.296C=	ENSP00000512067.1:n.296C=
ENST00000695629.1:c.191-532C=	ENSP00000512068.1:n.191-532C=
ENST00000695630.1:c.464C=
ENST00000695631.1:c.115-635C=
ENST00000703407.1:c.1209C=	ENSP00000512057.1:p.Asp403=
ENST00000308731.8:c.1737C= MANE Select	ENSP00000308176.8:p.Asp579=
ENST00000308731.7:c.1737C=	ENSP00000308176.7:p.Asp579=
ENST00000372880.5:c.1209C=	ENSP00000361971.1:p.Asp403=
ENST00000470069.1:n.102C=
ENST00000488970.1:n.339C=
ENST00000618050.4:c.1736C=	ENSP00000479125.1:n.1736C=
ENST00000621635.4:c.1839C=	ENSP00000483570.1:p.Asp613=
NM_000061.2:c.1737C= , LRG_128t1:c.1737C=	NP_000052.1:p.Asp579=
NM_001287344.1:c.1839C=	NP_001274273.1:p.Asp613=
NM_001287345.1:c.1209C=	NP_001274274.1:p.Asp403=
NM_000061.3:c.1737C= MANE Select	NP_000052.1:p.Asp579=
NM_001287344.2:c.1839C=	NP_001274273.1:p.Asp613=
NM_001287345.2:c.1209C=	NP_001274274.1:p.Asp403=