Canonical Allele Identifier: CA2448283031

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353258C= , CM000685.2:g.101353258C=	GRCh38
NC_000023.10:g.100608246C= , CM000685.1:g.100608246C=	GRCh37
NC_000023.9:g.100494902C=	NCBI36
NG_009616.1:g.37967G= , LRG_128:g.37967G=
NG_011734.1:g.712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3361G=
ENST00000488970.2:n.4000G=
ENST00000695614.1:c.1844G=	ENSP00000512053.1:p.Arg615=
ENST00000695615.1:c.1844G=	ENSP00000512054.1:p.Arg615=
ENST00000695616.1:c.*1689G=	ENSP00000512055.1:n.*1689G=
ENST00000695617.1:c.1841G=	ENSP00000512056.1:p.Arg614=
ENST00000695618.1:c.*1593G=	ENSP00000512058.1:n.*1593G=
ENST00000695619.1:c.*1554G=	ENSP00000512059.1:n.*1554G=
ENST00000695620.1:c.*1770G=	ENSP00000512060.1:n.*1770G=
ENST00000695621.1:c.*269G=	ENSP00000512061.1:n.*269G=
ENST00000695622.1:c.1781G=	ENSP00000512062.1:p.Arg594=
ENST00000695623.1:c.1838G=	ENSP00000512063.1:p.Arg613=
ENST00000695624.1:n.1149G=
ENST00000695625.1:c.1844G=	ENSP00000512064.1:p.Arg615=
ENST00000695626.1:c.599G=	ENSP00000512065.1:n.599G=
ENST00000695627.1:c.792G=	ENSP00000512066.1:n.792G=
ENST00000695628.1:c.403G=	ENSP00000512067.1:n.403G=
ENST00000695629.1:c.284G=	ENSP00000512068.1:p.Arg95=
ENST00000695630.1:c.571G=
ENST00000695631.1:c.115-10G=
ENST00000703407.1:c.1316G=	ENSP00000512057.1:p.Arg439=
ENST00000308731.8:c.1844G= MANE Select	ENSP00000308176.8:p.Arg615=
ENST00000308731.7:c.1844G=	ENSP00000308176.7:p.Arg615=
ENST00000372880.5:c.1316G=	ENSP00000361971.1:p.Arg439=
ENST00000470069.1:n.209G=
ENST00000618050.4:c.1843G=	ENSP00000479125.1:n.1843G=
ENST00000621635.4:c.1946G=	ENSP00000483570.1:p.Arg649=
NM_000061.2:c.1844G= , LRG_128t1:c.1844G=	NP_000052.1:p.Arg615=
NM_001287344.1:c.1946G=	NP_001274273.1:p.Arg649=
NM_001287345.1:c.1316G=	NP_001274274.1:p.Arg439=
NM_000061.3:c.1844G= MANE Select	NP_000052.1:p.Arg615=
NM_001287344.2:c.1946G=	NP_001274273.1:p.Arg649=
NM_001287345.2:c.1316G=	NP_001274274.1:p.Arg439=