Canonical Allele Identifier: CA413918941

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608255T>C (hg19) ; chrX:g.101353267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353267T>C , CM000685.2:g.101353267T>C	GRCh38
NC_000023.10:g.100608255T>C , CM000685.1:g.100608255T>C	GRCh37
NC_000023.9:g.100494911T>C	NCBI36
NG_009616.1:g.37958A>G , LRG_128:g.37958A>G
NG_011734.1:g.703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3352A>G
ENST00000488970.2:n.3991A>G
ENST00000695614.1:c.1835A>G	ENSP00000512053.1:p.Gln612Arg
ENST00000695615.1:c.1835A>G	ENSP00000512054.1:p.Gln612Arg
ENST00000695616.1:c.*1680A>G	ENSP00000512055.1:n.*1680A>G
ENST00000695617.1:c.1832A>G	ENSP00000512056.1:p.Gln611Arg
ENST00000695618.1:c.*1584A>G	ENSP00000512058.1:n.*1584A>G
ENST00000695619.1:c.*1545A>G	ENSP00000512059.1:n.*1545A>G
ENST00000695620.1:c.*1761A>G	ENSP00000512060.1:n.*1761A>G
ENST00000695621.1:c.*260A>G	ENSP00000512061.1:n.*260A>G
ENST00000695622.1:c.1772A>G	ENSP00000512062.1:p.Gln591Arg
ENST00000695623.1:c.1829A>G	ENSP00000512063.1:p.Gln610Arg
ENST00000695624.1:n.1140A>G
ENST00000695625.1:c.1835A>G	ENSP00000512064.1:p.Gln612Arg
ENST00000695626.1:c.590A>G	ENSP00000512065.1:n.590A>G
ENST00000695627.1:c.783A>G	ENSP00000512066.1:n.783A>G
ENST00000695628.1:c.394A>G	ENSP00000512067.1:n.394A>G
ENST00000695629.1:c.275A>G	ENSP00000512068.1:p.Gln92Arg
ENST00000695630.1:c.562A>G
ENST00000695631.1:c.115-19A>G
ENST00000703407.1:c.1307A>G	ENSP00000512057.1:p.Gln436Arg
ENST00000308731.8:c.1835A>G MANE Select	ENSP00000308176.8:p.Gln612Arg
ENST00000308731.7:c.1835A>G	ENSP00000308176.7:p.Gln612Arg
ENST00000372880.5:c.1307A>G	ENSP00000361971.1:p.Gln436Arg
ENST00000470069.1:n.200A>G
ENST00000618050.4:c.1834A>G	ENSP00000479125.1:n.1834A>G
ENST00000621635.4:c.1937A>G	ENSP00000483570.1:p.Gln646Arg
NM_000061.2:c.1835A>G , LRG_128t1:c.1835A>G	NP_000052.1:p.Gln612Arg
NM_001287344.1:c.1937A>G	NP_001274273.1:p.Gln646Arg
NM_001287345.1:c.1307A>G	NP_001274274.1:p.Gln436Arg
NM_000061.3:c.1835A>G MANE Select	NP_000052.1:p.Gln612Arg
NM_001287344.2:c.1937A>G	NP_001274273.1:p.Gln646Arg
NM_001287345.2:c.1307A>G	NP_001274274.1:p.Gln436Arg