Canonical Allele Identifier: CA333097278

Gene: BTK

Linked Data

• dbSNP Id: rs952971939
• gnomAD v4: X-101359293-C-T
• MyVariant Identifiers: chrX:g.100614281C>T (hg19) ; chrX:g.101359293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359293C>T , CM000685.2:g.101359293C>T	GRCh38
NC_000023.10:g.100614281C>T , CM000685.1:g.100614281C>T	GRCh37
NC_000023.9:g.100500937C>T	NCBI36
NG_009616.1:g.31932G>A , LRG_128:g.31932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.674G>A
ENST00000478995.2:n.1054G>A
ENST00000488970.2:n.1052G>A
ENST00000695614.1:c.894G>A	ENSP00000512053.1:p.Glu298=
ENST00000695615.1:c.894G>A	ENSP00000512054.1:p.Glu298=
ENST00000695616.1:c.*739G>A	ENSP00000512055.1:n.*739G>A
ENST00000695617.1:c.891G>A	ENSP00000512056.1:p.Glu297=
ENST00000695618.1:c.*643G>A	ENSP00000512058.1:n.*643G>A
ENST00000695619.1:c.*684+795G>A	ENSP00000512059.1:n.*684+795G>A
ENST00000695620.1:c.*739G>A	ENSP00000512060.1:n.*739G>A
ENST00000695621.1:c.894G>A	ENSP00000512061.1:p.Glu298=
ENST00000695622.1:c.831G>A	ENSP00000512062.1:p.Glu277=
ENST00000695623.1:c.888G>A	ENSP00000512063.1:p.Glu296=
ENST00000695624.1:n.199G>A
ENST00000695625.1:c.894G>A	ENSP00000512064.1:p.Glu298=
ENST00000703407.1:c.894G>A	ENSP00000512057.1:p.Glu298=
ENST00000308731.8:c.894G>A MANE Select	ENSP00000308176.8:p.Glu298=
ENST00000308731.7:c.894G>A	ENSP00000308176.7:p.Glu298=
ENST00000372880.5:c.894G>A	ENSP00000361971.1:p.Glu298=
ENST00000618050.4:c.894G>A	ENSP00000479125.1:p.Glu298=
ENST00000621635.4:c.996G>A	ENSP00000483570.1:p.Glu332=
NM_000061.2:c.894G>A , LRG_128t1:c.894G>A	NP_000052.1:p.Glu298=
NM_001287344.1:c.996G>A	NP_001274273.1:p.Glu332=
NM_001287345.1:c.894G>A	NP_001274274.1:p.Glu298=
NM_000061.3:c.894G>A MANE Select	NP_000052.1:p.Glu298=
NM_001287344.2:c.996G>A	NP_001274273.1:p.Glu332=
NM_001287345.2:c.894G>A	NP_001274274.1:p.Glu298=