Canonical Allele Identifier: CA413918515

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608204A>G (hg19) ; chrX:g.101353216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353216A>G , CM000685.2:g.101353216A>G	GRCh38
NC_000023.10:g.100608204A>G , CM000685.1:g.100608204A>G	GRCh37
NC_000023.9:g.100494860A>G	NCBI36
NG_009616.1:g.38009T>C , LRG_128:g.38009T>C
NG_011734.1:g.754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3403T>C
ENST00000488970.2:n.4042T>C
ENST00000695614.1:c.1886T>C	ENSP00000512053.1:p.Ile629Thr
ENST00000695615.1:c.1886T>C	ENSP00000512054.1:p.Ile629Thr
ENST00000695616.1:c.*1731T>C	ENSP00000512055.1:n.*1731T>C
ENST00000695617.1:c.1883T>C	ENSP00000512056.1:p.Ile628Thr
ENST00000695618.1:c.*1635T>C	ENSP00000512058.1:n.*1635T>C
ENST00000695619.1:c.*1596T>C	ENSP00000512059.1:n.*1596T>C
ENST00000695620.1:c.*1812T>C	ENSP00000512060.1:n.*1812T>C
ENST00000695621.1:c.*311T>C	ENSP00000512061.1:n.*311T>C
ENST00000695622.1:c.1823T>C	ENSP00000512062.1:p.Ile608Thr
ENST00000695623.1:c.1880T>C	ENSP00000512063.1:p.Ile627Thr
ENST00000695624.1:n.1191T>C
ENST00000695625.1:c.1875+11T>C	ENSP00000512064.1:n.1875+11T>C
ENST00000695626.1:c.641T>C	ENSP00000512065.1:n.641T>C
ENST00000695627.1:c.834T>C	ENSP00000512066.1:n.834T>C
ENST00000695628.1:c.445T>C	ENSP00000512067.1:n.445T>C
ENST00000695629.1:c.326T>C	ENSP00000512068.1:p.Ile109Thr
ENST00000695630.1:c.613T>C
ENST00000695631.1:c.147T>C
ENST00000703407.1:c.1358T>C	ENSP00000512057.1:p.Ile453Thr
ENST00000308731.8:c.1886T>C MANE Select	ENSP00000308176.8:p.Ile629Thr
ENST00000308731.7:c.1886T>C	ENSP00000308176.7:p.Ile629Thr
ENST00000372880.5:c.1358T>C	ENSP00000361971.1:p.Ile453Thr
ENST00000470069.1:n.251T>C
ENST00000618050.4:c.1885T>C	ENSP00000479125.1:n.1885T>C
ENST00000621635.4:c.1988T>C	ENSP00000483570.1:p.Ile663Thr
NM_000061.2:c.1886T>C , LRG_128t1:c.1886T>C	NP_000052.1:p.Ile629Thr
NM_001287344.1:c.1988T>C	NP_001274273.1:p.Ile663Thr
NM_001287345.1:c.1358T>C	NP_001274274.1:p.Ile453Thr
NM_000061.3:c.1886T>C MANE Select	NP_000052.1:p.Ile629Thr
NM_001287344.2:c.1988T>C	NP_001274273.1:p.Ile663Thr
NM_001287345.2:c.1358T>C	NP_001274274.1:p.Ile453Thr