Canonical Allele Identifier: CA413929604

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100614283C>A (hg19) ; chrX:g.101359295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359295C>A , CM000685.2:g.101359295C>A	GRCh38
NC_000023.10:g.100614283C>A , CM000685.1:g.100614283C>A	GRCh37
NC_000023.9:g.100500939C>A	NCBI36
NG_009616.1:g.31930G>T , LRG_128:g.31930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.672G>T
ENST00000478995.2:n.1052G>T
ENST00000488970.2:n.1050G>T
ENST00000695614.1:c.892G>T	ENSP00000512053.1:p.Glu298Ter
ENST00000695615.1:c.892G>T	ENSP00000512054.1:p.Glu298Ter
ENST00000695616.1:c.*737G>T	ENSP00000512055.1:n.*737G>T
ENST00000695617.1:c.889G>T	ENSP00000512056.1:p.Glu297Ter
ENST00000695618.1:c.*641G>T	ENSP00000512058.1:n.*641G>T
ENST00000695619.1:c.*684+793G>T	ENSP00000512059.1:n.*684+793G>T
ENST00000695620.1:c.*737G>T	ENSP00000512060.1:n.*737G>T
ENST00000695621.1:c.892G>T	ENSP00000512061.1:p.Glu298Ter
ENST00000695622.1:c.829G>T	ENSP00000512062.1:p.Glu277Ter
ENST00000695623.1:c.886G>T	ENSP00000512063.1:p.Glu296Ter
ENST00000695624.1:n.197G>T
ENST00000695625.1:c.892G>T	ENSP00000512064.1:p.Glu298Ter
ENST00000703407.1:c.892G>T	ENSP00000512057.1:p.Glu298Ter
ENST00000308731.8:c.892G>T MANE Select	ENSP00000308176.8:p.Glu298Ter
ENST00000308731.7:c.892G>T	ENSP00000308176.7:p.Glu298Ter
ENST00000372880.5:c.892G>T	ENSP00000361971.1:p.Glu298Ter
ENST00000618050.4:c.892G>T	ENSP00000479125.1:p.Glu298Ter
ENST00000621635.4:c.994G>T	ENSP00000483570.1:p.Glu332Ter
NM_000061.2:c.892G>T , LRG_128t1:c.892G>T	NP_000052.1:p.Glu298Ter
NM_001287344.1:c.994G>T	NP_001274273.1:p.Glu332Ter
NM_001287345.1:c.892G>T	NP_001274274.1:p.Glu298Ter
NM_000061.3:c.892G>T MANE Select	NP_000052.1:p.Glu298Ter
NM_001287344.2:c.994G>T	NP_001274273.1:p.Glu332Ter
NM_001287345.2:c.892G>T	NP_001274274.1:p.Glu298Ter