Canonical Allele Identifier: CA413919342

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608300G>C (hg19) ; chrX:g.101353312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353312G>C , CM000685.2:g.101353312G>C	GRCh38
NC_000023.10:g.100608300G>C , CM000685.1:g.100608300G>C	GRCh37
NC_000023.9:g.100494956G>C	NCBI36
NG_009616.1:g.37913C>G , LRG_128:g.37913C>G
NG_011734.1:g.658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3307C>G
ENST00000488970.2:n.3946C>G
ENST00000695614.1:c.1790C>G	ENSP00000512053.1:p.Pro597Arg
ENST00000695615.1:c.1790C>G	ENSP00000512054.1:p.Pro597Arg
ENST00000695616.1:c.*1635C>G	ENSP00000512055.1:n.*1635C>G
ENST00000695617.1:c.1787C>G	ENSP00000512056.1:p.Pro596Arg
ENST00000695618.1:c.*1539C>G	ENSP00000512058.1:n.*1539C>G
ENST00000695619.1:c.*1500C>G	ENSP00000512059.1:n.*1500C>G
ENST00000695620.1:c.*1716C>G	ENSP00000512060.1:n.*1716C>G
ENST00000695621.1:c.*215C>G	ENSP00000512061.1:n.*215C>G
ENST00000695622.1:c.1727C>G	ENSP00000512062.1:p.Pro576Arg
ENST00000695623.1:c.1784C>G	ENSP00000512063.1:p.Pro595Arg
ENST00000695624.1:n.1095C>G
ENST00000695625.1:c.1790C>G	ENSP00000512064.1:p.Pro597Arg
ENST00000695626.1:c.545C>G	ENSP00000512065.1:n.545C>G
ENST00000695627.1:c.738C>G	ENSP00000512066.1:n.738C>G
ENST00000695628.1:c.349C>G	ENSP00000512067.1:n.349C>G
ENST00000695629.1:c.230C>G	ENSP00000512068.1:p.Pro77Arg
ENST00000695630.1:c.517C>G
ENST00000695631.1:c.115-64C>G
ENST00000703407.1:c.1262C>G	ENSP00000512057.1:p.Pro421Arg
ENST00000308731.8:c.1790C>G MANE Select	ENSP00000308176.8:p.Pro597Arg
ENST00000308731.7:c.1790C>G	ENSP00000308176.7:p.Pro597Arg
ENST00000372880.5:c.1262C>G	ENSP00000361971.1:p.Pro421Arg
ENST00000470069.1:n.155C>G
ENST00000618050.4:c.1789C>G	ENSP00000479125.1:n.1789C>G
ENST00000621635.4:c.1892C>G	ENSP00000483570.1:p.Pro631Arg
NM_000061.2:c.1790C>G , LRG_128t1:c.1790C>G	NP_000052.1:p.Pro597Arg
NM_001287344.1:c.1892C>G	NP_001274273.1:p.Pro631Arg
NM_001287345.1:c.1262C>G	NP_001274274.1:p.Pro421Arg
NM_000061.3:c.1790C>G MANE Select	NP_000052.1:p.Pro597Arg
NM_001287344.2:c.1892C>G	NP_001274273.1:p.Pro631Arg
NM_001287345.2:c.1262C>G	NP_001274274.1:p.Pro421Arg