Canonical Allele Identifier: CA413918529

Gene: BTK

Linked Data

• dbSNP Id: rs1555977326
• gnomAD v2: X-100608205-T-C
• gnomAD v4: X-101353217-T-C
• MyVariant Identifiers: chrX:g.100608205T>C (hg19) ; chrX:g.101353217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353217T>C , CM000685.2:g.101353217T>C	GRCh38
NC_000023.10:g.100608205T>C , CM000685.1:g.100608205T>C	GRCh37
NC_000023.9:g.100494861T>C	NCBI36
NG_009616.1:g.38008A>G , LRG_128:g.38008A>G
NG_011734.1:g.753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3402A>G
ENST00000488970.2:n.4041A>G
ENST00000695614.1:c.1885A>G	ENSP00000512053.1:p.Ile629Val
ENST00000695615.1:c.1885A>G	ENSP00000512054.1:p.Ile629Val
ENST00000695616.1:c.*1730A>G	ENSP00000512055.1:n.*1730A>G
ENST00000695617.1:c.1882A>G	ENSP00000512056.1:p.Ile628Val
ENST00000695618.1:c.*1634A>G	ENSP00000512058.1:n.*1634A>G
ENST00000695619.1:c.*1595A>G	ENSP00000512059.1:n.*1595A>G
ENST00000695620.1:c.*1811A>G	ENSP00000512060.1:n.*1811A>G
ENST00000695621.1:c.*310A>G	ENSP00000512061.1:n.*310A>G
ENST00000695622.1:c.1822A>G	ENSP00000512062.1:p.Ile608Val
ENST00000695623.1:c.1879A>G	ENSP00000512063.1:p.Ile627Val
ENST00000695624.1:n.1190A>G
ENST00000695625.1:c.1875+10A>G	ENSP00000512064.1:n.1875+10A>G
ENST00000695626.1:c.640A>G	ENSP00000512065.1:n.640A>G
ENST00000695627.1:c.833A>G	ENSP00000512066.1:n.833A>G
ENST00000695628.1:c.444A>G	ENSP00000512067.1:n.444A>G
ENST00000695629.1:c.325A>G	ENSP00000512068.1:p.Ile109Val
ENST00000695630.1:c.612A>G
ENST00000695631.1:c.146A>G
ENST00000703407.1:c.1357A>G	ENSP00000512057.1:p.Ile453Val
ENST00000308731.8:c.1885A>G MANE Select	ENSP00000308176.8:p.Ile629Val
ENST00000308731.7:c.1885A>G	ENSP00000308176.7:p.Ile629Val
ENST00000372880.5:c.1357A>G	ENSP00000361971.1:p.Ile453Val
ENST00000470069.1:n.250A>G
ENST00000618050.4:c.1884A>G	ENSP00000479125.1:n.1884A>G
ENST00000621635.4:c.1987A>G	ENSP00000483570.1:p.Ile663Val
NM_000061.2:c.1885A>G , LRG_128t1:c.1885A>G	NP_000052.1:p.Ile629Val
NM_001287344.1:c.1987A>G	NP_001274273.1:p.Ile663Val
NM_001287345.1:c.1357A>G	NP_001274274.1:p.Ile453Val
NM_000061.3:c.1885A>G MANE Select	NP_000052.1:p.Ile629Val
NM_001287344.2:c.1987A>G	NP_001274273.1:p.Ile663Val
NM_001287345.2:c.1357A>G	NP_001274274.1:p.Ile453Val