Canonical Allele Identifier: CA413929632

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100614285T>G (hg19) ; chrX:g.101359297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359297T>G , CM000685.2:g.101359297T>G	GRCh38
NC_000023.10:g.100614285T>G , CM000685.1:g.100614285T>G	GRCh37
NC_000023.9:g.100500941T>G	NCBI36
NG_009616.1:g.31928A>C , LRG_128:g.31928A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.670A>C
ENST00000478995.2:n.1050A>C
ENST00000488970.2:n.1048A>C
ENST00000695614.1:c.890A>C	ENSP00000512053.1:p.Gln297Pro
ENST00000695615.1:c.890A>C	ENSP00000512054.1:p.Gln297Pro
ENST00000695616.1:c.*735A>C	ENSP00000512055.1:n.*735A>C
ENST00000695617.1:c.887A>C	ENSP00000512056.1:p.Gln296Pro
ENST00000695618.1:c.*639A>C	ENSP00000512058.1:n.*639A>C
ENST00000695619.1:c.*684+791A>C	ENSP00000512059.1:n.*684+791A>C
ENST00000695620.1:c.*735A>C	ENSP00000512060.1:n.*735A>C
ENST00000695621.1:c.890A>C	ENSP00000512061.1:p.Gln297Pro
ENST00000695622.1:c.827A>C	ENSP00000512062.1:p.Gln276Pro
ENST00000695623.1:c.884A>C	ENSP00000512063.1:p.Gln295Pro
ENST00000695624.1:n.195A>C
ENST00000695625.1:c.890A>C	ENSP00000512064.1:p.Gln297Pro
ENST00000703407.1:c.890A>C	ENSP00000512057.1:p.Gln297Pro
ENST00000308731.8:c.890A>C MANE Select	ENSP00000308176.8:p.Gln297Pro
ENST00000308731.7:c.890A>C	ENSP00000308176.7:p.Gln297Pro
ENST00000372880.5:c.890A>C	ENSP00000361971.1:p.Gln297Pro
ENST00000618050.4:c.890A>C	ENSP00000479125.1:p.Gln297Pro
ENST00000621635.4:c.992A>C	ENSP00000483570.1:p.Gln331Pro
NM_000061.2:c.890A>C , LRG_128t1:c.890A>C	NP_000052.1:p.Gln297Pro
NM_001287344.1:c.992A>C	NP_001274273.1:p.Gln331Pro
NM_001287345.1:c.890A>C	NP_001274274.1:p.Gln297Pro
NM_000061.3:c.890A>C MANE Select	NP_000052.1:p.Gln297Pro
NM_001287344.2:c.992A>C	NP_001274273.1:p.Gln331Pro
NM_001287345.2:c.890A>C	NP_001274274.1:p.Gln297Pro