Canonical Allele Identifier: CA517529501

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608206G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353218G>A , CM000685.2:g.101353218G>A	GRCh38
NC_000023.10:g.100608206G>A , CM000685.1:g.100608206G>A	GRCh37
NC_000023.9:g.100494862G>A	NCBI36
NG_009616.1:g.38007C>T , LRG_128:g.38007C>T
NG_011734.1:g.752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3401C>T
ENST00000488970.2:n.4040C>T
ENST00000695614.1:c.1884C>T	ENSP00000512053.1:p.Thr628=
ENST00000695615.1:c.1884C>T	ENSP00000512054.1:p.Thr628=
ENST00000695616.1:c.*1729C>T	ENSP00000512055.1:n.*1729C>T
ENST00000695617.1:c.1881C>T	ENSP00000512056.1:p.Thr627=
ENST00000695618.1:c.*1633C>T	ENSP00000512058.1:n.*1633C>T
ENST00000695619.1:c.*1594C>T	ENSP00000512059.1:n.*1594C>T
ENST00000695620.1:c.*1810C>T	ENSP00000512060.1:n.*1810C>T
ENST00000695621.1:c.*309C>T	ENSP00000512061.1:n.*309C>T
ENST00000695622.1:c.1821C>T	ENSP00000512062.1:p.Thr607=
ENST00000695623.1:c.1878C>T	ENSP00000512063.1:p.Thr626=
ENST00000695624.1:n.1189C>T
ENST00000695625.1:c.1875+9C>T	ENSP00000512064.1:n.1875+9C>T
ENST00000695626.1:c.639C>T	ENSP00000512065.1:n.639C>T
ENST00000695627.1:c.832C>T	ENSP00000512066.1:n.832C>T
ENST00000695628.1:c.443C>T	ENSP00000512067.1:n.443C>T
ENST00000695629.1:c.324C>T	ENSP00000512068.1:p.Thr108=
ENST00000695630.1:c.611C>T
ENST00000695631.1:c.145C>T
ENST00000703407.1:c.1356C>T	ENSP00000512057.1:p.Thr452=
ENST00000308731.8:c.1884C>T MANE Select	ENSP00000308176.8:p.Thr628=
ENST00000308731.7:c.1884C>T	ENSP00000308176.7:p.Thr628=
ENST00000372880.5:c.1356C>T	ENSP00000361971.1:p.Thr452=
ENST00000470069.1:n.249C>T
ENST00000618050.4:c.1883C>T	ENSP00000479125.1:n.1883C>T
ENST00000621635.4:c.1986C>T	ENSP00000483570.1:p.Thr662=
NM_000061.2:c.1884C>T , LRG_128t1:c.1884C>T	NP_000052.1:p.Thr628=
NM_001287344.1:c.1986C>T	NP_001274273.1:p.Thr662=
NM_001287345.1:c.1356C>T	NP_001274274.1:p.Thr452=
NM_000061.3:c.1884C>T MANE Select	NP_000052.1:p.Thr628=
NM_001287344.2:c.1986C>T	NP_001274273.1:p.Thr662=
NM_001287345.2:c.1356C>T	NP_001274274.1:p.Thr452=