Canonical Allele Identifier: CA413919130

Gene: BTK

Linked Data

• COSMIC: COSM422290
• MyVariant Identifiers: chrX:g.100608277C>T (hg19) ; chrX:g.101353289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353289C>T , CM000685.2:g.101353289C>T	GRCh38
NC_000023.10:g.100608277C>T , CM000685.1:g.100608277C>T	GRCh37
NC_000023.9:g.100494933C>T	NCBI36
NG_009616.1:g.37936G>A , LRG_128:g.37936G>A
NG_011734.1:g.681G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3330G>A
ENST00000488970.2:n.3969G>A
ENST00000695614.1:c.1813G>A	ENSP00000512053.1:p.Glu605Lys
ENST00000695615.1:c.1813G>A	ENSP00000512054.1:p.Glu605Lys
ENST00000695616.1:c.*1658G>A	ENSP00000512055.1:n.*1658G>A
ENST00000695617.1:c.1810G>A	ENSP00000512056.1:p.Glu604Lys
ENST00000695618.1:c.*1562G>A	ENSP00000512058.1:n.*1562G>A
ENST00000695619.1:c.*1523G>A	ENSP00000512059.1:n.*1523G>A
ENST00000695620.1:c.*1739G>A	ENSP00000512060.1:n.*1739G>A
ENST00000695621.1:c.*238G>A	ENSP00000512061.1:n.*238G>A
ENST00000695622.1:c.1750G>A	ENSP00000512062.1:p.Glu584Lys
ENST00000695623.1:c.1807G>A	ENSP00000512063.1:p.Glu603Lys
ENST00000695624.1:n.1118G>A
ENST00000695625.1:c.1813G>A	ENSP00000512064.1:p.Glu605Lys
ENST00000695626.1:c.568G>A	ENSP00000512065.1:n.568G>A
ENST00000695627.1:c.761G>A	ENSP00000512066.1:n.761G>A
ENST00000695628.1:c.372G>A	ENSP00000512067.1:n.372G>A
ENST00000695629.1:c.253G>A	ENSP00000512068.1:p.Glu85Lys
ENST00000695630.1:c.540G>A
ENST00000695631.1:c.115-41G>A
ENST00000703407.1:c.1285G>A	ENSP00000512057.1:p.Glu429Lys
ENST00000308731.8:c.1813G>A MANE Select	ENSP00000308176.8:p.Glu605Lys
ENST00000308731.7:c.1813G>A	ENSP00000308176.7:p.Glu605Lys
ENST00000372880.5:c.1285G>A	ENSP00000361971.1:p.Glu429Lys
ENST00000470069.1:n.178G>A
ENST00000618050.4:c.1812G>A	ENSP00000479125.1:n.1812G>A
ENST00000621635.4:c.1915G>A	ENSP00000483570.1:p.Glu639Lys
NM_000061.2:c.1813G>A , LRG_128t1:c.1813G>A	NP_000052.1:p.Glu605Lys
NM_001287344.1:c.1915G>A	NP_001274273.1:p.Glu639Lys
NM_001287345.1:c.1285G>A	NP_001274274.1:p.Glu429Lys
NM_000061.3:c.1813G>A MANE Select	NP_000052.1:p.Glu605Lys
NM_001287344.2:c.1915G>A	NP_001274273.1:p.Glu639Lys
NM_001287345.2:c.1285G>A	NP_001274274.1:p.Glu429Lys