Canonical Allele Identifier: CA413919351

Gene: BTK

Linked Data

• ClinVar Variation Id: 1058237
• ClinVar RCV Id: RCV001367344 ; RCV001548637
• dbSNP Id: rs868967798
• MyVariant Identifiers: chrX:g.100608301G>A (hg19) ; chrX:g.101353313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353313G>A , CM000685.2:g.101353313G>A	GRCh38
NC_000023.10:g.100608301G>A , CM000685.1:g.100608301G>A	GRCh37
NC_000023.9:g.100494957G>A	NCBI36
NG_009616.1:g.37912C>T , LRG_128:g.37912C>T
NG_011734.1:g.657C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3306C>T
ENST00000488970.2:n.3945C>T
ENST00000695614.1:c.1789C>T	ENSP00000512053.1:p.Pro597Ser
ENST00000695615.1:c.1789C>T	ENSP00000512054.1:p.Pro597Ser
ENST00000695616.1:c.*1634C>T	ENSP00000512055.1:n.*1634C>T
ENST00000695617.1:c.1786C>T	ENSP00000512056.1:p.Pro596Ser
ENST00000695618.1:c.*1538C>T	ENSP00000512058.1:n.*1538C>T
ENST00000695619.1:c.*1499C>T	ENSP00000512059.1:n.*1499C>T
ENST00000695620.1:c.*1715C>T	ENSP00000512060.1:n.*1715C>T
ENST00000695621.1:c.*214C>T	ENSP00000512061.1:n.*214C>T
ENST00000695622.1:c.1726C>T	ENSP00000512062.1:p.Pro576Ser
ENST00000695623.1:c.1783C>T	ENSP00000512063.1:p.Pro595Ser
ENST00000695624.1:n.1094C>T
ENST00000695625.1:c.1789C>T	ENSP00000512064.1:p.Pro597Ser
ENST00000695626.1:c.544C>T	ENSP00000512065.1:n.544C>T
ENST00000695627.1:c.737C>T	ENSP00000512066.1:n.737C>T
ENST00000695628.1:c.348C>T	ENSP00000512067.1:n.348C>T
ENST00000695629.1:c.229C>T	ENSP00000512068.1:p.Pro77Ser
ENST00000695630.1:c.516C>T
ENST00000695631.1:c.115-65C>T
ENST00000703407.1:c.1261C>T	ENSP00000512057.1:p.Pro421Ser
ENST00000308731.8:c.1789C>T MANE Select	ENSP00000308176.8:p.Pro597Ser
ENST00000308731.7:c.1789C>T	ENSP00000308176.7:p.Pro597Ser
ENST00000372880.5:c.1261C>T	ENSP00000361971.1:p.Pro421Ser
ENST00000470069.1:n.154C>T
ENST00000618050.4:c.1788C>T	ENSP00000479125.1:n.1788C>T
ENST00000621635.4:c.1891C>T	ENSP00000483570.1:p.Pro631Ser
NM_000061.2:c.1789C>T , LRG_128t1:c.1789C>T	NP_000052.1:p.Pro597Ser
NM_001287344.1:c.1891C>T	NP_001274273.1:p.Pro631Ser
NM_001287345.1:c.1261C>T	NP_001274274.1:p.Pro421Ser
NM_000061.3:c.1789C>T MANE Select	NP_000052.1:p.Pro597Ser
NM_001287344.2:c.1891C>T	NP_001274273.1:p.Pro631Ser
NM_001287345.2:c.1261C>T	NP_001274274.1:p.Pro421Ser