Canonical Allele Identifier: CA413919556

Gene: BTK

Linked Data

• ClinVar Variation Id: 1493291
• ClinVar RCV Id: RCV001984261
• dbSNP Id: rs1603001805
• MyVariant Identifiers: chrX:g.100608327C>A (hg19) ; chrX:g.101353339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353339C>A , CM000685.2:g.101353339C>A	GRCh38
NC_000023.10:g.100608327C>A , CM000685.1:g.100608327C>A	GRCh37
NC_000023.9:g.100494983C>A	NCBI36
NG_009616.1:g.37886G>T , LRG_128:g.37886G>T
NG_011734.1:g.631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3280G>T
ENST00000488970.2:n.3919G>T
ENST00000695614.1:c.1763G>T	ENSP00000512053.1:p.Trp588Leu
ENST00000695615.1:c.1763G>T	ENSP00000512054.1:p.Trp588Leu
ENST00000695616.1:c.*1608G>T	ENSP00000512055.1:n.*1608G>T
ENST00000695617.1:c.1760G>T	ENSP00000512056.1:p.Trp587Leu
ENST00000695618.1:c.*1512G>T	ENSP00000512058.1:n.*1512G>T
ENST00000695619.1:c.*1473G>T	ENSP00000512059.1:n.*1473G>T
ENST00000695620.1:c.*1689G>T	ENSP00000512060.1:n.*1689G>T
ENST00000695621.1:c.*188G>T	ENSP00000512061.1:n.*188G>T
ENST00000695622.1:c.1700G>T	ENSP00000512062.1:p.Trp567Leu
ENST00000695623.1:c.1757G>T	ENSP00000512063.1:p.Trp586Leu
ENST00000695624.1:n.1068G>T
ENST00000695625.1:c.1763G>T	ENSP00000512064.1:p.Trp588Leu
ENST00000695626.1:c.518G>T	ENSP00000512065.1:n.518G>T
ENST00000695627.1:c.711G>T	ENSP00000512066.1:n.711G>T
ENST00000695628.1:c.322G>T	ENSP00000512067.1:n.322G>T
ENST00000695629.1:c.203G>T	ENSP00000512068.1:p.Trp68Leu
ENST00000695630.1:c.490G>T
ENST00000695631.1:c.115-91G>T
ENST00000703407.1:c.1235G>T	ENSP00000512057.1:p.Trp412Leu
ENST00000308731.8:c.1763G>T MANE Select	ENSP00000308176.8:p.Trp588Leu
ENST00000308731.7:c.1763G>T	ENSP00000308176.7:p.Trp588Leu
ENST00000372880.5:c.1235G>T	ENSP00000361971.1:p.Trp412Leu
ENST00000470069.1:n.128G>T
ENST00000488970.1:n.365G>T
ENST00000618050.4:c.1762G>T	ENSP00000479125.1:n.1762G>T
ENST00000621635.4:c.1865G>T	ENSP00000483570.1:p.Trp622Leu
NM_000061.2:c.1763G>T , LRG_128t1:c.1763G>T	NP_000052.1:p.Trp588Leu
NM_001287344.1:c.1865G>T	NP_001274273.1:p.Trp622Leu
NM_001287345.1:c.1235G>T	NP_001274274.1:p.Trp412Leu
NM_000061.3:c.1763G>T MANE Select	NP_000052.1:p.Trp588Leu
NM_001287344.2:c.1865G>T	NP_001274273.1:p.Trp622Leu
NM_001287345.2:c.1235G>T	NP_001274274.1:p.Trp412Leu