Canonical Allele Identifier: CA413920557

Gene: BTK

Linked Data

• ClinVar Variation Id: 579604
• ClinVar RCV Id: RCV000702940
• dbSNP Id: rs1555977474
• gnomAD v4: X-101353932-C-T
• MyVariant Identifiers: chrX:g.100608920C>T (hg19) ; chrX:g.101353932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353932C>T , CM000685.2:g.101353932C>T	GRCh38
NC_000023.10:g.100608920C>T , CM000685.1:g.100608920C>T	GRCh37
NC_000023.9:g.100495576C>T	NCBI36
NG_009616.1:g.37293G>A , LRG_128:g.37293G>A
NG_011734.1:g.38G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3205G>A
ENST00000488970.2:n.3844G>A
ENST00000695614.1:c.1688G>A	ENSP00000512053.1:p.Trp563Ter
ENST00000695615.1:c.1688G>A	ENSP00000512054.1:p.Trp563Ter
ENST00000695616.1:c.*1533G>A	ENSP00000512055.1:n.*1533G>A
ENST00000695617.1:c.1685G>A	ENSP00000512056.1:p.Trp562Ter
ENST00000695618.1:c.*1437G>A	ENSP00000512058.1:n.*1437G>A
ENST00000695619.1:c.*1398G>A	ENSP00000512059.1:n.*1398G>A
ENST00000695620.1:c.*1614G>A	ENSP00000512060.1:n.*1614G>A
ENST00000695621.1:c.*113G>A	ENSP00000512061.1:n.*113G>A
ENST00000695622.1:c.1625G>A	ENSP00000512062.1:p.Trp542Ter
ENST00000695623.1:c.1682G>A	ENSP00000512063.1:p.Trp561Ter
ENST00000695624.1:n.993G>A
ENST00000695625.1:c.1688G>A	ENSP00000512064.1:p.Trp563Ter
ENST00000695626.1:c.443G>A	ENSP00000512065.1:n.443G>A
ENST00000695627.1:c.636G>A	ENSP00000512066.1:n.636G>A
ENST00000695628.1:c.247G>A	ENSP00000512067.1:n.247G>A
ENST00000695629.1:c.191-581G>A	ENSP00000512068.1:n.191-581G>A
ENST00000695630.1:c.415G>A
ENST00000695631.1:c.115-684G>A
ENST00000695632.1:n.488G>A
ENST00000703407.1:c.1160G>A	ENSP00000512057.1:p.Trp387Ter
ENST00000308731.8:c.1688G>A MANE Select	ENSP00000308176.8:p.Trp563Ter
ENST00000308731.7:c.1688G>A	ENSP00000308176.7:p.Trp563Ter
ENST00000372880.5:c.1160G>A	ENSP00000361971.1:p.Trp387Ter
ENST00000470069.1:n.53G>A
ENST00000488970.1:n.290G>A
ENST00000618050.4:c.1688G>A	ENSP00000479125.1:p.Trp563Ter
ENST00000621635.4:c.1790G>A	ENSP00000483570.1:p.Trp597Ter
NM_000061.2:c.1688G>A , LRG_128t1:c.1688G>A	NP_000052.1:p.Trp563Ter
NM_001287344.1:c.1790G>A	NP_001274273.1:p.Trp597Ter
NM_001287345.1:c.1160G>A	NP_001274274.1:p.Trp387Ter
NM_000061.3:c.1688G>A MANE Select	NP_000052.1:p.Trp563Ter
NM_001287344.2:c.1790G>A	NP_001274273.1:p.Trp597Ter
NM_001287345.2:c.1160G>A	NP_001274274.1:p.Trp387Ter