Canonical Allele Identifier: CA413919953

Gene: BTK

Linked Data

• COSMIC: COSM369055
• MyVariant Identifiers: chrX:g.100608864C>T (hg19) ; chrX:g.101353876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353876C>T , CM000685.2:g.101353876C>T	GRCh38
NC_000023.10:g.100608864C>T , CM000685.1:g.100608864C>T	GRCh37
NC_000023.9:g.100495520C>T	NCBI36
NG_009616.1:g.37349G>A , LRG_128:g.37349G>A
NG_011734.1:g.94G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3261G>A
ENST00000488970.2:n.3900G>A
ENST00000695614.1:c.1744G>A	ENSP00000512053.1:p.Ala582Thr
ENST00000695615.1:c.1744G>A	ENSP00000512054.1:p.Ala582Thr
ENST00000695616.1:c.*1589G>A	ENSP00000512055.1:n.*1589G>A
ENST00000695617.1:c.1741G>A	ENSP00000512056.1:p.Ala581Thr
ENST00000695618.1:c.*1493G>A	ENSP00000512058.1:n.*1493G>A
ENST00000695619.1:c.*1454G>A	ENSP00000512059.1:n.*1454G>A
ENST00000695620.1:c.*1670G>A	ENSP00000512060.1:n.*1670G>A
ENST00000695621.1:c.*169G>A	ENSP00000512061.1:n.*169G>A
ENST00000695622.1:c.1681G>A	ENSP00000512062.1:p.Ala561Thr
ENST00000695623.1:c.1738G>A	ENSP00000512063.1:p.Ala580Thr
ENST00000695624.1:n.1049G>A
ENST00000695625.1:c.1744G>A	ENSP00000512064.1:p.Ala582Thr
ENST00000695626.1:c.499G>A	ENSP00000512065.1:n.499G>A
ENST00000695627.1:c.692G>A	ENSP00000512066.1:n.692G>A
ENST00000695628.1:c.303G>A	ENSP00000512067.1:n.303G>A
ENST00000695629.1:c.191-525G>A	ENSP00000512068.1:n.191-525G>A
ENST00000695630.1:c.471G>A
ENST00000695631.1:c.115-628G>A
ENST00000703407.1:c.1216G>A	ENSP00000512057.1:p.Ala406Thr
ENST00000308731.8:c.1744G>A MANE Select	ENSP00000308176.8:p.Ala582Thr
ENST00000308731.7:c.1744G>A	ENSP00000308176.7:p.Ala582Thr
ENST00000372880.5:c.1216G>A	ENSP00000361971.1:p.Ala406Thr
ENST00000470069.1:n.109G>A
ENST00000488970.1:n.346G>A
ENST00000618050.4:c.1743G>A	ENSP00000479125.1:n.1743G>A
ENST00000621635.4:c.1846G>A	ENSP00000483570.1:p.Ala616Thr
NM_000061.2:c.1744G>A , LRG_128t1:c.1744G>A	NP_000052.1:p.Ala582Thr
NM_001287344.1:c.1846G>A	NP_001274273.1:p.Ala616Thr
NM_001287345.1:c.1216G>A	NP_001274274.1:p.Ala406Thr
NM_000061.3:c.1744G>A MANE Select	NP_000052.1:p.Ala582Thr
NM_001287344.2:c.1846G>A	NP_001274273.1:p.Ala616Thr
NM_001287345.2:c.1216G>A	NP_001274274.1:p.Ala406Thr