Canonical Allele Identifier: CA517529701

Gene: BTK

Linked Data

• COSMIC: COSM309556
• MyVariant Identifiers: chrX:g.100608287A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353299A>G , CM000685.2:g.101353299A>G	GRCh38
NC_000023.10:g.100608287A>G , CM000685.1:g.100608287A>G	GRCh37
NC_000023.9:g.100494943A>G	NCBI36
NG_009616.1:g.37926T>C , LRG_128:g.37926T>C
NG_011734.1:g.671T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3320T>C
ENST00000488970.2:n.3959T>C
ENST00000695614.1:c.1803T>C	ENSP00000512053.1:p.Phe601=
ENST00000695615.1:c.1803T>C	ENSP00000512054.1:p.Phe601=
ENST00000695616.1:c.*1648T>C	ENSP00000512055.1:n.*1648T>C
ENST00000695617.1:c.1800T>C	ENSP00000512056.1:p.Phe600=
ENST00000695618.1:c.*1552T>C	ENSP00000512058.1:n.*1552T>C
ENST00000695619.1:c.*1513T>C	ENSP00000512059.1:n.*1513T>C
ENST00000695620.1:c.*1729T>C	ENSP00000512060.1:n.*1729T>C
ENST00000695621.1:c.*228T>C	ENSP00000512061.1:n.*228T>C
ENST00000695622.1:c.1740T>C	ENSP00000512062.1:p.Phe580=
ENST00000695623.1:c.1797T>C	ENSP00000512063.1:p.Phe599=
ENST00000695624.1:n.1108T>C
ENST00000695625.1:c.1803T>C	ENSP00000512064.1:p.Phe601=
ENST00000695626.1:c.558T>C	ENSP00000512065.1:n.558T>C
ENST00000695627.1:c.751T>C	ENSP00000512066.1:n.751T>C
ENST00000695628.1:c.362T>C	ENSP00000512067.1:n.362T>C
ENST00000695629.1:c.243T>C	ENSP00000512068.1:p.Phe81=
ENST00000695630.1:c.530T>C
ENST00000695631.1:c.115-51T>C
ENST00000703407.1:c.1275T>C	ENSP00000512057.1:p.Phe425=
ENST00000308731.8:c.1803T>C MANE Select	ENSP00000308176.8:p.Phe601=
ENST00000308731.7:c.1803T>C	ENSP00000308176.7:p.Phe601=
ENST00000372880.5:c.1275T>C	ENSP00000361971.1:p.Phe425=
ENST00000470069.1:n.168T>C
ENST00000618050.4:c.1802T>C	ENSP00000479125.1:n.1802T>C
ENST00000621635.4:c.1905T>C	ENSP00000483570.1:p.Phe635=
NM_000061.2:c.1803T>C , LRG_128t1:c.1803T>C	NP_000052.1:p.Phe601=
NM_001287344.1:c.1905T>C	NP_001274273.1:p.Phe635=
NM_001287345.1:c.1275T>C	NP_001274274.1:p.Phe425=
NM_000061.3:c.1803T>C MANE Select	NP_000052.1:p.Phe601=
NM_001287344.2:c.1905T>C	NP_001274273.1:p.Phe635=
NM_001287345.2:c.1275T>C	NP_001274274.1:p.Phe425=