Canonical Allele Identifier: CA413918367

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608190A>C (hg19) ; chrX:g.101353202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353202A>C , CM000685.2:g.101353202A>C	GRCh38
NC_000023.10:g.100608190A>C , CM000685.1:g.100608190A>C	GRCh37
NC_000023.9:g.100494846A>C	NCBI36
NG_009616.1:g.38023T>G , LRG_128:g.38023T>G
NG_011734.1:g.768T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3417T>G
ENST00000488970.2:n.4056T>G
ENST00000695614.1:c.1900T>G	ENSP00000512053.1:p.Trp634Gly
ENST00000695615.1:c.1900T>G	ENSP00000512054.1:p.Trp634Gly
ENST00000695616.1:c.*1745T>G	ENSP00000512055.1:n.*1745T>G
ENST00000695617.1:c.1897T>G	ENSP00000512056.1:p.Trp633Gly
ENST00000695618.1:c.*1649T>G	ENSP00000512058.1:n.*1649T>G
ENST00000695619.1:c.*1610T>G	ENSP00000512059.1:n.*1610T>G
ENST00000695620.1:c.*1826T>G	ENSP00000512060.1:n.*1826T>G
ENST00000695621.1:c.*325T>G	ENSP00000512061.1:n.*325T>G
ENST00000695622.1:c.1837T>G	ENSP00000512062.1:p.Trp613Gly
ENST00000695623.1:c.1894T>G	ENSP00000512063.1:p.Trp632Gly
ENST00000695624.1:n.1205T>G
ENST00000695625.1:c.1875+25T>G	ENSP00000512064.1:n.1875+25T>G
ENST00000695626.1:c.655T>G	ENSP00000512065.1:n.655T>G
ENST00000695627.1:c.848T>G	ENSP00000512066.1:n.848T>G
ENST00000695628.1:c.459T>G	ENSP00000512067.1:n.459T>G
ENST00000695629.1:c.340T>G	ENSP00000512068.1:p.Trp114Gly
ENST00000695630.1:c.627T>G
ENST00000695631.1:c.161T>G
ENST00000703407.1:c.1372T>G	ENSP00000512057.1:p.Trp458Gly
ENST00000308731.8:c.1900T>G MANE Select	ENSP00000308176.8:p.Trp634Gly
ENST00000308731.7:c.1900T>G	ENSP00000308176.7:p.Trp634Gly
ENST00000372880.5:c.1372T>G	ENSP00000361971.1:p.Trp458Gly
ENST00000470069.1:n.265T>G
ENST00000618050.4:c.1899T>G	ENSP00000479125.1:n.1899T>G
ENST00000621635.4:c.2002T>G	ENSP00000483570.1:p.Trp668Gly
NM_000061.2:c.1900T>G , LRG_128t1:c.1900T>G	NP_000052.1:p.Trp634Gly
NM_001287344.1:c.2002T>G	NP_001274273.1:p.Trp668Gly
NM_001287345.1:c.1372T>G	NP_001274274.1:p.Trp458Gly
NM_000061.3:c.1900T>G MANE Select	NP_000052.1:p.Trp634Gly
NM_001287344.2:c.2002T>G	NP_001274273.1:p.Trp668Gly
NM_001287345.2:c.1372T>G	NP_001274274.1:p.Trp458Gly