Canonical Allele Identifier: CA413917734

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349943C>G , CM000685.2:g.101349943C>G	GRCh38
NC_000023.10:g.100604931C>G , CM000685.1:g.100604931C>G	GRCh37
NC_000023.9:g.100491587C>G	NCBI36
NG_009616.1:g.41282G>C , LRG_128:g.41282G>C
NG_011734.1:g.4027G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1922G>C MANE Select	NP_000052.1:p.Arg641Pro
ENST00000308731.8:c.1922G>C MANE Select	ENSP00000308176.8:p.Arg641Pro
NM_000061.2:c.1922G>C , LRG_128t1:c.1922G>C	NP_000052.1:p.Arg641Pro
NM_001287344.1:c.2024G>C	NP_001274273.1:p.Arg675Pro
NM_001287344.2:c.2024G>C	NP_001274273.1:p.Arg675Pro
NM_001287345.1:c.1394G>C	NP_001274274.1:p.Arg465Pro
NM_001287345.2:c.1394G>C	NP_001274274.1:p.Arg465Pro
ENST00000308731.7:c.1922G>C	ENSP00000308176.7:p.Arg641Pro
ENST00000372880.5:c.1394G>C	ENSP00000361971.1:p.Arg465Pro
ENST00000478995.2:n.3439G>C
ENST00000488970.2:n.4078G>C
ENST00000618050.4:c.1921G>C	ENSP00000479125.1:n.1921G>C
ENST00000621635.4:c.2024G>C	ENSP00000483570.1:p.Arg675Pro
ENST00000695614.1:c.1922G>C	ENSP00000512053.1:p.Arg641Pro
ENST00000695615.1:c.1922G>C	ENSP00000512054.1:p.Arg641Pro
ENST00000695616.1:c.*1767G>C	ENSP00000512055.1:n.*1767G>C
ENST00000695617.1:c.1919G>C	ENSP00000512056.1:p.Arg640Pro
ENST00000695618.1:c.*1671G>C	ENSP00000512058.1:n.*1671G>C
ENST00000695619.1:c.*1632G>C	ENSP00000512059.1:n.*1632G>C
ENST00000695620.1:c.*1848G>C	ENSP00000512060.1:n.*1848G>C
ENST00000695621.1:c.*347G>C	ENSP00000512061.1:n.*347G>C
ENST00000695622.1:c.1859G>C	ENSP00000512062.1:p.Arg620Pro
ENST00000695623.1:c.1916G>C	ENSP00000512063.1:p.Arg639Pro
ENST00000695624.1:n.1227G>C
ENST00000695625.1:c.1889G>C	ENSP00000512064.1:p.Arg630Pro
ENST00000695626.1:c.677G>C	ENSP00000512065.1:n.677G>C
ENST00000695627.1:c.870G>C	ENSP00000512066.1:n.870G>C
ENST00000695628.1:c.481G>C	ENSP00000512067.1:n.481G>C
ENST00000695629.1:c.362G>C	ENSP00000512068.1:p.Arg121Pro
ENST00000695630.1:c.649G>C
ENST00000695631.1:c.183G>C
ENST00000703407.1:c.1394G>C	ENSP00000512057.1:p.Arg465Pro