Canonical Allele Identifier: CA517529560

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608221T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353233T>A , CM000685.2:g.101353233T>A	GRCh38
NC_000023.10:g.100608221T>A , CM000685.1:g.100608221T>A	GRCh37
NC_000023.9:g.100494877T>A	NCBI36
NG_009616.1:g.37992A>T , LRG_128:g.37992A>T
NG_011734.1:g.737A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3386A>T
ENST00000488970.2:n.4025A>T
ENST00000695614.1:c.1869A>T	ENSP00000512053.1:p.Ser623=
ENST00000695615.1:c.1869A>T	ENSP00000512054.1:p.Ser623=
ENST00000695616.1:c.*1714A>T	ENSP00000512055.1:n.*1714A>T
ENST00000695617.1:c.1866A>T	ENSP00000512056.1:p.Ser622=
ENST00000695618.1:c.*1618A>T	ENSP00000512058.1:n.*1618A>T
ENST00000695619.1:c.*1579A>T	ENSP00000512059.1:n.*1579A>T
ENST00000695620.1:c.*1795A>T	ENSP00000512060.1:n.*1795A>T
ENST00000695621.1:c.*294A>T	ENSP00000512061.1:n.*294A>T
ENST00000695622.1:c.1806A>T	ENSP00000512062.1:p.Ser602=
ENST00000695623.1:c.1863A>T	ENSP00000512063.1:p.Ser621=
ENST00000695624.1:n.1174A>T
ENST00000695625.1:c.1869A>T	ENSP00000512064.1:p.Ser623=
ENST00000695626.1:c.624A>T	ENSP00000512065.1:n.624A>T
ENST00000695627.1:c.817A>T	ENSP00000512066.1:n.817A>T
ENST00000695628.1:c.428A>T	ENSP00000512067.1:n.428A>T
ENST00000695629.1:c.309A>T	ENSP00000512068.1:p.Ser103=
ENST00000695630.1:c.596A>T
ENST00000695631.1:c.130A>T
ENST00000703407.1:c.1341A>T	ENSP00000512057.1:p.Ser447=
ENST00000308731.8:c.1869A>T MANE Select	ENSP00000308176.8:p.Ser623=
ENST00000308731.7:c.1869A>T	ENSP00000308176.7:p.Ser623=
ENST00000372880.5:c.1341A>T	ENSP00000361971.1:p.Ser447=
ENST00000470069.1:n.234A>T
ENST00000618050.4:c.1868A>T	ENSP00000479125.1:n.1868A>T
ENST00000621635.4:c.1971A>T	ENSP00000483570.1:p.Ser657=
NM_000061.2:c.1869A>T , LRG_128t1:c.1869A>T	NP_000052.1:p.Ser623=
NM_001287344.1:c.1971A>T	NP_001274273.1:p.Ser657=
NM_001287345.1:c.1341A>T	NP_001274274.1:p.Ser447=
NM_000061.3:c.1869A>T MANE Select	NP_000052.1:p.Ser623=
NM_001287344.2:c.1971A>T	NP_001274273.1:p.Ser657=
NM_001287345.2:c.1341A>T	NP_001274274.1:p.Ser447=