Canonical Allele Identifier: CA413920073

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608875G>C (hg19) ; chrX:g.101353887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353887G>C , CM000685.2:g.101353887G>C	GRCh38
NC_000023.10:g.100608875G>C , CM000685.1:g.100608875G>C	GRCh37
NC_000023.9:g.100495531G>C	NCBI36
NG_009616.1:g.37338C>G , LRG_128:g.37338C>G
NG_011734.1:g.83C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3250C>G
ENST00000488970.2:n.3889C>G
ENST00000695614.1:c.1733C>G	ENSP00000512053.1:p.Ser578Cys
ENST00000695615.1:c.1733C>G	ENSP00000512054.1:p.Ser578Cys
ENST00000695616.1:c.*1578C>G	ENSP00000512055.1:n.*1578C>G
ENST00000695617.1:c.1730C>G	ENSP00000512056.1:p.Ser577Cys
ENST00000695618.1:c.*1482C>G	ENSP00000512058.1:n.*1482C>G
ENST00000695619.1:c.*1443C>G	ENSP00000512059.1:n.*1443C>G
ENST00000695620.1:c.*1659C>G	ENSP00000512060.1:n.*1659C>G
ENST00000695621.1:c.*158C>G	ENSP00000512061.1:n.*158C>G
ENST00000695622.1:c.1670C>G	ENSP00000512062.1:p.Ser557Cys
ENST00000695623.1:c.1727C>G	ENSP00000512063.1:p.Ser576Cys
ENST00000695624.1:n.1038C>G
ENST00000695625.1:c.1733C>G	ENSP00000512064.1:p.Ser578Cys
ENST00000695626.1:c.488C>G	ENSP00000512065.1:n.488C>G
ENST00000695627.1:c.681C>G	ENSP00000512066.1:n.681C>G
ENST00000695628.1:c.292C>G	ENSP00000512067.1:n.292C>G
ENST00000695629.1:c.191-536C>G	ENSP00000512068.1:n.191-536C>G
ENST00000695630.1:c.460C>G
ENST00000695631.1:c.115-639C>G
ENST00000703407.1:c.1205C>G	ENSP00000512057.1:p.Ser402Cys
ENST00000308731.8:c.1733C>G MANE Select	ENSP00000308176.8:p.Ser578Cys
ENST00000308731.7:c.1733C>G	ENSP00000308176.7:p.Ser578Cys
ENST00000372880.5:c.1205C>G	ENSP00000361971.1:p.Ser402Cys
ENST00000470069.1:n.98C>G
ENST00000488970.1:n.335C>G
ENST00000618050.4:c.1732C>G	ENSP00000479125.1:n.1732C>G
ENST00000621635.4:c.1835C>G	ENSP00000483570.1:p.Ser612Cys
NM_000061.2:c.1733C>G , LRG_128t1:c.1733C>G	NP_000052.1:p.Ser578Cys
NM_001287344.1:c.1835C>G	NP_001274273.1:p.Ser612Cys
NM_001287345.1:c.1205C>G	NP_001274274.1:p.Ser402Cys
NM_000061.3:c.1733C>G MANE Select	NP_000052.1:p.Ser578Cys
NM_001287344.2:c.1835C>G	NP_001274273.1:p.Ser612Cys
NM_001287345.2:c.1205C>G	NP_001274274.1:p.Ser402Cys