Canonical Allele Identifier: CA413919222

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608288A>C (hg19) ; chrX:g.101353300A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353300A>C , CM000685.2:g.101353300A>C	GRCh38
NC_000023.10:g.100608288A>C , CM000685.1:g.100608288A>C	GRCh37
NC_000023.9:g.100494944A>C	NCBI36
NG_009616.1:g.37925T>G , LRG_128:g.37925T>G
NG_011734.1:g.670T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3319T>G
ENST00000488970.2:n.3958T>G
ENST00000695614.1:c.1802T>G	ENSP00000512053.1:p.Phe601Cys
ENST00000695615.1:c.1802T>G	ENSP00000512054.1:p.Phe601Cys
ENST00000695616.1:c.*1647T>G	ENSP00000512055.1:n.*1647T>G
ENST00000695617.1:c.1799T>G	ENSP00000512056.1:p.Phe600Cys
ENST00000695618.1:c.*1551T>G	ENSP00000512058.1:n.*1551T>G
ENST00000695619.1:c.*1512T>G	ENSP00000512059.1:n.*1512T>G
ENST00000695620.1:c.*1728T>G	ENSP00000512060.1:n.*1728T>G
ENST00000695621.1:c.*227T>G	ENSP00000512061.1:n.*227T>G
ENST00000695622.1:c.1739T>G	ENSP00000512062.1:p.Phe580Cys
ENST00000695623.1:c.1796T>G	ENSP00000512063.1:p.Phe599Cys
ENST00000695624.1:n.1107T>G
ENST00000695625.1:c.1802T>G	ENSP00000512064.1:p.Phe601Cys
ENST00000695626.1:c.557T>G	ENSP00000512065.1:n.557T>G
ENST00000695627.1:c.750T>G	ENSP00000512066.1:n.750T>G
ENST00000695628.1:c.361T>G	ENSP00000512067.1:n.361T>G
ENST00000695629.1:c.242T>G	ENSP00000512068.1:p.Phe81Cys
ENST00000695630.1:c.529T>G
ENST00000695631.1:c.115-52T>G
ENST00000703407.1:c.1274T>G	ENSP00000512057.1:p.Phe425Cys
ENST00000308731.8:c.1802T>G MANE Select	ENSP00000308176.8:p.Phe601Cys
ENST00000308731.7:c.1802T>G	ENSP00000308176.7:p.Phe601Cys
ENST00000372880.5:c.1274T>G	ENSP00000361971.1:p.Phe425Cys
ENST00000470069.1:n.167T>G
ENST00000618050.4:c.1801T>G	ENSP00000479125.1:n.1801T>G
ENST00000621635.4:c.1904T>G	ENSP00000483570.1:p.Phe635Cys
NM_000061.2:c.1802T>G , LRG_128t1:c.1802T>G	NP_000052.1:p.Phe601Cys
NM_001287344.1:c.1904T>G	NP_001274273.1:p.Phe635Cys
NM_001287345.1:c.1274T>G	NP_001274274.1:p.Phe425Cys
NM_000061.3:c.1802T>G MANE Select	NP_000052.1:p.Phe601Cys
NM_001287344.2:c.1904T>G	NP_001274273.1:p.Phe635Cys
NM_001287345.2:c.1274T>G	NP_001274274.1:p.Phe425Cys