Canonical Allele Identifier: CA2448283048

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353322C= , CM000685.2:g.101353322C=	GRCh38
NC_000023.10:g.100608310C= , CM000685.1:g.100608310C=	GRCh37
NC_000023.9:g.100494966C=	NCBI36
NG_009616.1:g.37903G= , LRG_128:g.37903G=
NG_011734.1:g.648G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3297G=
ENST00000488970.2:n.3936G=
ENST00000695614.1:c.1780G=	ENSP00000512053.1:p.Gly594=
ENST00000695615.1:c.1780G=	ENSP00000512054.1:p.Gly594=
ENST00000695616.1:c.*1625G=	ENSP00000512055.1:n.*1625G=
ENST00000695617.1:c.1777G=	ENSP00000512056.1:p.Gly593=
ENST00000695618.1:c.*1529G=	ENSP00000512058.1:n.*1529G=
ENST00000695619.1:c.*1490G=	ENSP00000512059.1:n.*1490G=
ENST00000695620.1:c.*1706G=	ENSP00000512060.1:n.*1706G=
ENST00000695621.1:c.*205G=	ENSP00000512061.1:n.*205G=
ENST00000695622.1:c.1717G=	ENSP00000512062.1:p.Gly573=
ENST00000695623.1:c.1774G=	ENSP00000512063.1:p.Gly592=
ENST00000695624.1:n.1085G=
ENST00000695625.1:c.1780G=	ENSP00000512064.1:p.Gly594=
ENST00000695626.1:c.535G=	ENSP00000512065.1:n.535G=
ENST00000695627.1:c.728G=	ENSP00000512066.1:n.728G=
ENST00000695628.1:c.339G=	ENSP00000512067.1:n.339G=
ENST00000695629.1:c.220G=	ENSP00000512068.1:p.Gly74=
ENST00000695630.1:c.507G=
ENST00000695631.1:c.115-74G=
ENST00000703407.1:c.1252G=	ENSP00000512057.1:p.Gly418=
ENST00000308731.8:c.1780G= MANE Select	ENSP00000308176.8:p.Gly594=
ENST00000308731.7:c.1780G=	ENSP00000308176.7:p.Gly594=
ENST00000372880.5:c.1252G=	ENSP00000361971.1:p.Gly418=
ENST00000470069.1:n.145G=
ENST00000488970.1:n.382G=
ENST00000618050.4:c.1779G=	ENSP00000479125.1:n.1779G=
ENST00000621635.4:c.1882G=	ENSP00000483570.1:p.Gly628=
NM_000061.2:c.1780G= , LRG_128t1:c.1780G=	NP_000052.1:p.Gly594=
NM_001287344.1:c.1882G=	NP_001274273.1:p.Gly628=
NM_001287345.1:c.1252G=	NP_001274274.1:p.Gly418=
NM_000061.3:c.1780G= MANE Select	NP_000052.1:p.Gly594=
NM_001287344.2:c.1882G=	NP_001274273.1:p.Gly628=
NM_001287345.2:c.1252G=	NP_001274274.1:p.Gly418=