Canonical Allele Identifier: CA517530190

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608877T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353889T>C , CM000685.2:g.101353889T>C	GRCh38
NC_000023.10:g.100608877T>C , CM000685.1:g.100608877T>C	GRCh37
NC_000023.9:g.100495533T>C	NCBI36
NG_009616.1:g.37336A>G , LRG_128:g.37336A>G
NG_011734.1:g.81A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3248A>G
ENST00000488970.2:n.3887A>G
ENST00000695614.1:c.1731A>G	ENSP00000512053.1:p.Lys577=
ENST00000695615.1:c.1731A>G	ENSP00000512054.1:p.Lys577=
ENST00000695616.1:c.*1576A>G	ENSP00000512055.1:n.*1576A>G
ENST00000695617.1:c.1728A>G	ENSP00000512056.1:p.Lys576=
ENST00000695618.1:c.*1480A>G	ENSP00000512058.1:n.*1480A>G
ENST00000695619.1:c.*1441A>G	ENSP00000512059.1:n.*1441A>G
ENST00000695620.1:c.*1657A>G	ENSP00000512060.1:n.*1657A>G
ENST00000695621.1:c.*156A>G	ENSP00000512061.1:n.*156A>G
ENST00000695622.1:c.1668A>G	ENSP00000512062.1:p.Lys556=
ENST00000695623.1:c.1725A>G	ENSP00000512063.1:p.Lys575=
ENST00000695624.1:n.1036A>G
ENST00000695625.1:c.1731A>G	ENSP00000512064.1:p.Lys577=
ENST00000695626.1:c.486A>G	ENSP00000512065.1:n.486A>G
ENST00000695627.1:c.679A>G	ENSP00000512066.1:n.679A>G
ENST00000695628.1:c.290A>G	ENSP00000512067.1:n.290A>G
ENST00000695629.1:c.191-538A>G	ENSP00000512068.1:n.191-538A>G
ENST00000695630.1:c.458A>G
ENST00000695631.1:c.115-641A>G
ENST00000703407.1:c.1203A>G	ENSP00000512057.1:p.Lys401=
ENST00000308731.8:c.1731A>G MANE Select	ENSP00000308176.8:p.Lys577=
ENST00000308731.7:c.1731A>G	ENSP00000308176.7:p.Lys577=
ENST00000372880.5:c.1203A>G	ENSP00000361971.1:p.Lys401=
ENST00000470069.1:n.96A>G
ENST00000488970.1:n.333A>G
ENST00000618050.4:c.1730A>G	ENSP00000479125.1:n.1730A>G
ENST00000621635.4:c.1833A>G	ENSP00000483570.1:p.Lys611=
NM_000061.2:c.1731A>G , LRG_128t1:c.1731A>G	NP_000052.1:p.Lys577=
NM_001287344.1:c.1833A>G	NP_001274273.1:p.Lys611=
NM_001287345.1:c.1203A>G	NP_001274274.1:p.Lys401=
NM_000061.3:c.1731A>G MANE Select	NP_000052.1:p.Lys577=
NM_001287344.2:c.1833A>G	NP_001274273.1:p.Lys611=
NM_001287345.2:c.1203A>G	NP_001274274.1:p.Lys401=