Canonical Allele Identifier: CA10472949

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349888G>A , CM000685.2:g.101349888G>A	GRCh38
NC_000023.10:g.100604876G>A , CM000685.1:g.100604876G>A	GRCh37
NC_000023.9:g.100491532G>A	NCBI36
NG_009616.1:g.41337C>T , LRG_128:g.41337C>T
NG_011734.1:g.4082C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1977C>T MANE Select	NP_000052.1:p.Ser659=
ENST00000308731.8:c.1977C>T MANE Select	ENSP00000308176.8:p.Ser659=
NM_000061.2:c.1977C>T , LRG_128t1:c.1977C>T	NP_000052.1:p.Ser659=
NM_001287344.1:c.2079C>T	NP_001274273.1:p.Ser693=
NM_001287344.2:c.2079C>T	NP_001274273.1:p.Ser693=
NM_001287345.1:c.1449C>T	NP_001274274.1:p.Ser483=
NM_001287345.2:c.1449C>T	NP_001274274.1:p.Ser483=
ENST00000308731.7:c.1977C>T	ENSP00000308176.7:p.Ser659=
ENST00000372880.5:c.1449C>T	ENSP00000361971.1:p.Ser483=
ENST00000478995.2:n.3494C>T
ENST00000488970.2:n.4133C>T
ENST00000618050.4:c.1976C>T	ENSP00000479125.1:n.1976C>T
ENST00000621635.4:c.2079C>T	ENSP00000483570.1:p.Ser693=
ENST00000695614.1:c.1977C>T	ENSP00000512053.1:p.Ser659=
ENST00000695615.1:c.1977C>T	ENSP00000512054.1:p.Ser659=
ENST00000695616.1:c.*1822C>T	ENSP00000512055.1:n.*1822C>T
ENST00000695617.1:c.1974C>T	ENSP00000512056.1:p.Ser658=
ENST00000695618.1:c.*1726C>T	ENSP00000512058.1:n.*1726C>T
ENST00000695619.1:c.*1687C>T	ENSP00000512059.1:n.*1687C>T
ENST00000695620.1:c.*1903C>T	ENSP00000512060.1:n.*1903C>T
ENST00000695621.1:c.*402C>T	ENSP00000512061.1:n.*402C>T
ENST00000695622.1:c.1914C>T	ENSP00000512062.1:p.Ser638=
ENST00000695623.1:c.1971C>T	ENSP00000512063.1:p.Ser657=
ENST00000695624.1:n.1282C>T
ENST00000695625.1:c.1944C>T	ENSP00000512064.1:p.Ser648=
ENST00000695626.1:c.732C>T	ENSP00000512065.1:n.732C>T
ENST00000695627.1:c.925C>T	ENSP00000512066.1:n.925C>T
ENST00000695628.1:c.536C>T	ENSP00000512067.1:n.536C>T
ENST00000695629.1:c.417C>T	ENSP00000512068.1:p.Ser139=
ENST00000695630.1:c.704C>T
ENST00000695631.1:c.238C>T
ENST00000703407.1:c.1449C>T	ENSP00000512057.1:p.Ser483=