Canonical Allele Identifier: CA517529766

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608317G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353329G>A , CM000685.2:g.101353329G>A	GRCh38
NC_000023.10:g.100608317G>A , CM000685.1:g.100608317G>A	GRCh37
NC_000023.9:g.100494973G>A	NCBI36
NG_009616.1:g.37896C>T , LRG_128:g.37896C>T
NG_011734.1:g.641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3290C>T
ENST00000488970.2:n.3929C>T
ENST00000695614.1:c.1773C>T	ENSP00000512053.1:p.Tyr591=
ENST00000695615.1:c.1773C>T	ENSP00000512054.1:p.Tyr591=
ENST00000695616.1:c.*1618C>T	ENSP00000512055.1:n.*1618C>T
ENST00000695617.1:c.1770C>T	ENSP00000512056.1:p.Tyr590=
ENST00000695618.1:c.*1522C>T	ENSP00000512058.1:n.*1522C>T
ENST00000695619.1:c.*1483C>T	ENSP00000512059.1:n.*1483C>T
ENST00000695620.1:c.*1699C>T	ENSP00000512060.1:n.*1699C>T
ENST00000695621.1:c.*198C>T	ENSP00000512061.1:n.*198C>T
ENST00000695622.1:c.1710C>T	ENSP00000512062.1:p.Tyr570=
ENST00000695623.1:c.1767C>T	ENSP00000512063.1:p.Tyr589=
ENST00000695624.1:n.1078C>T
ENST00000695625.1:c.1773C>T	ENSP00000512064.1:p.Tyr591=
ENST00000695626.1:c.528C>T	ENSP00000512065.1:n.528C>T
ENST00000695627.1:c.721C>T	ENSP00000512066.1:n.721C>T
ENST00000695628.1:c.332C>T	ENSP00000512067.1:n.332C>T
ENST00000695629.1:c.213C>T	ENSP00000512068.1:p.Tyr71=
ENST00000695630.1:c.500C>T
ENST00000695631.1:c.115-81C>T
ENST00000703407.1:c.1245C>T	ENSP00000512057.1:p.Tyr415=
ENST00000308731.8:c.1773C>T MANE Select	ENSP00000308176.8:p.Tyr591=
ENST00000308731.7:c.1773C>T	ENSP00000308176.7:p.Tyr591=
ENST00000372880.5:c.1245C>T	ENSP00000361971.1:p.Tyr415=
ENST00000470069.1:n.138C>T
ENST00000488970.1:n.375C>T
ENST00000618050.4:c.1772C>T	ENSP00000479125.1:n.1772C>T
ENST00000621635.4:c.1875C>T	ENSP00000483570.1:p.Tyr625=
NM_000061.2:c.1773C>T , LRG_128t1:c.1773C>T	NP_000052.1:p.Tyr591=
NM_001287344.1:c.1875C>T	NP_001274273.1:p.Tyr625=
NM_001287345.1:c.1245C>T	NP_001274274.1:p.Tyr415=
NM_000061.3:c.1773C>T MANE Select	NP_000052.1:p.Tyr591=
NM_001287344.2:c.1875C>T	NP_001274273.1:p.Tyr625=
NM_001287345.2:c.1245C>T	NP_001274274.1:p.Tyr415=