Canonical Allele Identifier: CA413930000

Gene: BTK

Linked Data

• dbSNP Id: rs2147430968
• MyVariant Identifiers: chrX:g.100614305C>A (hg19) ; chrX:g.101359317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359317C>A , CM000685.2:g.101359317C>A	GRCh38
NC_000023.10:g.100614305C>A , CM000685.1:g.100614305C>A	GRCh37
NC_000023.9:g.100500961C>A	NCBI36
NG_009616.1:g.31908G>T , LRG_128:g.31908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.650G>T
ENST00000478995.2:n.1030G>T
ENST00000488970.2:n.1028G>T
ENST00000695614.1:c.870G>T	ENSP00000512053.1:p.Gln290His
ENST00000695615.1:c.870G>T	ENSP00000512054.1:p.Gln290His
ENST00000695616.1:c.*715G>T	ENSP00000512055.1:n.*715G>T
ENST00000695617.1:c.867G>T	ENSP00000512056.1:p.Gln289His
ENST00000695618.1:c.*619G>T	ENSP00000512058.1:n.*619G>T
ENST00000695619.1:c.*684+771G>T	ENSP00000512059.1:n.*684+771G>T
ENST00000695620.1:c.*715G>T	ENSP00000512060.1:n.*715G>T
ENST00000695621.1:c.870G>T	ENSP00000512061.1:p.Gln290His
ENST00000695622.1:c.807G>T	ENSP00000512062.1:p.Gln269His
ENST00000695623.1:c.864G>T	ENSP00000512063.1:p.Gln288His
ENST00000695624.1:n.175G>T
ENST00000695625.1:c.870G>T	ENSP00000512064.1:p.Gln290His
ENST00000703407.1:c.870G>T	ENSP00000512057.1:p.Gln290His
ENST00000308731.8:c.870G>T MANE Select	ENSP00000308176.8:p.Gln290His
ENST00000308731.7:c.870G>T	ENSP00000308176.7:p.Gln290His
ENST00000372880.5:c.870G>T	ENSP00000361971.1:p.Gln290His
ENST00000618050.4:c.870G>T	ENSP00000479125.1:p.Gln290His
ENST00000621635.4:c.972G>T	ENSP00000483570.1:p.Gln324His
NM_000061.2:c.870G>T , LRG_128t1:c.870G>T	NP_000052.1:p.Gln290His
NM_001287344.1:c.972G>T	NP_001274273.1:p.Gln324His
NM_001287345.1:c.870G>T	NP_001274274.1:p.Gln290His
NM_000061.3:c.870G>T MANE Select	NP_000052.1:p.Gln290His
NM_001287344.2:c.972G>T	NP_001274273.1:p.Gln324His
NM_001287345.2:c.870G>T	NP_001274274.1:p.Gln290His