Canonical Allele Identifier: CA255833

Gene: BTK

Linked Data

• ClinVar Variation Id: 11383
• ClinVar RCV Id: RCV000012136 ; RCV000581337 ; RCV000816209
• dbSNP Id: rs128621204
• MyVariant Identifiers: chrX:g.100608924G>A (hg19) ; chrX:g.101353936G>A (hg38)
• PubMed: PMID:7849697 ; PMID:7880320

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353936G>A , CM000685.2:g.101353936G>A	GRCh38
NC_000023.10:g.100608924G>A , CM000685.1:g.100608924G>A	GRCh37
NC_000023.9:g.100495580G>A	NCBI36
NG_009616.1:g.37289C>T , LRG_128:g.37289C>T
NG_011734.1:g.34C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3201C>T
ENST00000488970.2:n.3840C>T
ENST00000695614.1:c.1684C>T	ENSP00000512053.1:p.Arg562Trp
ENST00000695615.1:c.1684C>T	ENSP00000512054.1:p.Arg562Trp
ENST00000695616.1:c.*1529C>T	ENSP00000512055.1:n.*1529C>T
ENST00000695617.1:c.1681C>T	ENSP00000512056.1:p.Arg561Trp
ENST00000695618.1:c.*1433C>T	ENSP00000512058.1:n.*1433C>T
ENST00000695619.1:c.*1394C>T	ENSP00000512059.1:n.*1394C>T
ENST00000695620.1:c.*1610C>T	ENSP00000512060.1:n.*1610C>T
ENST00000695621.1:c.*109C>T	ENSP00000512061.1:n.*109C>T
ENST00000695622.1:c.1621C>T	ENSP00000512062.1:p.Arg541Trp
ENST00000695623.1:c.1678C>T	ENSP00000512063.1:p.Arg560Trp
ENST00000695624.1:n.989C>T
ENST00000695625.1:c.1684C>T	ENSP00000512064.1:p.Arg562Trp
ENST00000695626.1:c.439C>T	ENSP00000512065.1:n.439C>T
ENST00000695627.1:c.632C>T	ENSP00000512066.1:n.632C>T
ENST00000695628.1:c.243C>T	ENSP00000512067.1:n.243C>T
ENST00000695629.1:c.191-585C>T	ENSP00000512068.1:n.191-585C>T
ENST00000695630.1:c.411C>T
ENST00000695631.1:c.115-688C>T
ENST00000695632.1:n.484C>T
ENST00000703407.1:c.1156C>T	ENSP00000512057.1:p.Arg386Trp
ENST00000308731.8:c.1684C>T MANE Select	ENSP00000308176.8:p.Arg562Trp
ENST00000308731.7:c.1684C>T	ENSP00000308176.7:p.Arg562Trp
ENST00000372880.5:c.1156C>T	ENSP00000361971.1:p.Arg386Trp
ENST00000470069.1:n.49C>T
ENST00000488970.1:n.286C>T
ENST00000618050.4:c.1684C>T	ENSP00000479125.1:p.Arg562Trp
ENST00000621635.4:c.1786C>T	ENSP00000483570.1:p.Arg596Trp
NM_000061.2:c.1684C>T , LRG_128t1:c.1684C>T	NP_000052.1:p.Arg562Trp
NM_001287344.1:c.1786C>T	NP_001274273.1:p.Arg596Trp
NM_001287345.1:c.1156C>T	NP_001274274.1:p.Arg386Trp
NM_000061.3:c.1684C>T MANE Select	NP_000052.1:p.Arg562Trp
NM_001287344.2:c.1786C>T	NP_001274273.1:p.Arg596Trp
NM_001287345.2:c.1156C>T	NP_001274274.1:p.Arg386Trp