Canonical Allele Identifier: CA413918293

Gene: BTK

Linked Data

• gnomAD v4: X-101353194-C-A
• MyVariant Identifiers: chrX:g.100608182C>A (hg19) ; chrX:g.101353194C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353194C>A , CM000685.2:g.101353194C>A	GRCh38
NC_000023.10:g.100608182C>A , CM000685.1:g.100608182C>A	GRCh37
NC_000023.9:g.100494838C>A	NCBI36
NG_009616.1:g.38031G>T , LRG_128:g.38031G>T
NG_011734.1:g.776G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3425G>T
ENST00000488970.2:n.4064G>T
ENST00000695614.1:c.1908G>T	ENSP00000512053.1:p.Glu636Asp
ENST00000695615.1:c.1908G>T	ENSP00000512054.1:p.Glu636Asp
ENST00000695616.1:c.*1753G>T	ENSP00000512055.1:n.*1753G>T
ENST00000695617.1:c.1905G>T	ENSP00000512056.1:p.Glu635Asp
ENST00000695618.1:c.*1657G>T	ENSP00000512058.1:n.*1657G>T
ENST00000695619.1:c.*1618G>T	ENSP00000512059.1:n.*1618G>T
ENST00000695620.1:c.*1834G>T	ENSP00000512060.1:n.*1834G>T
ENST00000695621.1:c.*333G>T	ENSP00000512061.1:n.*333G>T
ENST00000695622.1:c.1845G>T	ENSP00000512062.1:p.Glu615Asp
ENST00000695623.1:c.1902G>T	ENSP00000512063.1:p.Glu634Asp
ENST00000695624.1:n.1213G>T
ENST00000695625.1:c.1875+33G>T	ENSP00000512064.1:n.1875+33G>T
ENST00000695626.1:c.663G>T	ENSP00000512065.1:n.663G>T
ENST00000695627.1:c.856G>T	ENSP00000512066.1:n.856G>T
ENST00000695628.1:c.467G>T	ENSP00000512067.1:n.467G>T
ENST00000695629.1:c.348G>T	ENSP00000512068.1:p.Glu116Asp
ENST00000695630.1:c.635G>T
ENST00000695631.1:c.169G>T
ENST00000703407.1:c.1380G>T	ENSP00000512057.1:p.Glu460Asp
ENST00000308731.8:c.1908G>T MANE Select	ENSP00000308176.8:p.Glu636Asp
ENST00000308731.7:c.1908G>T	ENSP00000308176.7:p.Glu636Asp
ENST00000372880.5:c.1380G>T	ENSP00000361971.1:p.Glu460Asp
ENST00000470069.1:n.273G>T
ENST00000618050.4:c.1907G>T	ENSP00000479125.1:n.1907G>T
ENST00000621635.4:c.2010G>T	ENSP00000483570.1:p.Glu670Asp
NM_000061.2:c.1908G>T , LRG_128t1:c.1908G>T	NP_000052.1:p.Glu636Asp
NM_001287344.1:c.2010G>T	NP_001274273.1:p.Glu670Asp
NM_001287345.1:c.1380G>T	NP_001274274.1:p.Glu460Asp
NM_000061.3:c.1908G>T MANE Select	NP_000052.1:p.Glu636Asp
NM_001287344.2:c.2010G>T	NP_001274273.1:p.Glu670Asp
NM_001287345.2:c.1380G>T	NP_001274274.1:p.Glu460Asp