Canonical Allele Identifier: CA517534236

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100612501T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357513T>G , CM000685.2:g.101357513T>G	GRCh38
NC_000023.10:g.100612501T>G , CM000685.1:g.100612501T>G	GRCh37
NC_000023.9:g.100499157T>G	NCBI36
NG_009616.1:g.33712A>C , LRG_128:g.33712A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1333A>C
ENST00000488970.2:n.1331A>C
ENST00000695614.1:c.1173A>C	ENSP00000512053.1:p.Gly391=
ENST00000695615.1:c.1173A>C	ENSP00000512054.1:p.Gly391=
ENST00000695616.1:c.*1018A>C	ENSP00000512055.1:n.*1018A>C
ENST00000695617.1:c.1170A>C	ENSP00000512056.1:p.Gly390=
ENST00000695618.1:c.*922A>C	ENSP00000512058.1:n.*922A>C
ENST00000695619.1:c.*883A>C	ENSP00000512059.1:n.*883A>C
ENST00000695620.1:c.*1018A>C	ENSP00000512060.1:n.*1018A>C
ENST00000695621.1:c.1173A>C	ENSP00000512061.1:p.Gly391=
ENST00000695622.1:c.1110A>C	ENSP00000512062.1:p.Gly370=
ENST00000695623.1:c.1167A>C	ENSP00000512063.1:p.Gly389=
ENST00000695624.1:n.478A>C
ENST00000695625.1:c.1173A>C	ENSP00000512064.1:p.Gly391=
ENST00000695626.1:c.186A>C	ENSP00000512065.1:p.Gly62=
ENST00000695627.1:c.186A>C	ENSP00000512066.1:p.Gly62=
ENST00000695628.1:c.186A>C	ENSP00000512067.1:p.Gly62=
ENST00000695629.1:c.186A>C	ENSP00000512068.1:p.Gly62=
ENST00000695630.1:c.182A>C
ENST00000695631.1:c.114+797A>C
ENST00000695632.1:n.190A>C
ENST00000703407.1:c.1038+861A>C	ENSP00000512057.1:n.1038+861A>C
ENST00000308731.8:c.1173A>C MANE Select	ENSP00000308176.8:p.Gly391=
ENST00000308731.7:c.1173A>C	ENSP00000308176.7:p.Gly391=
ENST00000372880.5:c.1038+861A>C	ENSP00000361971.1:n.1038+861A>C
ENST00000470329.1:n.123A>C
ENST00000618050.4:c.1173A>C	ENSP00000479125.1:p.Gly391=
ENST00000621635.4:c.1275A>C	ENSP00000483570.1:p.Gly425=
NM_000061.2:c.1173A>C , LRG_128t1:c.1173A>C	NP_000052.1:p.Gly391=
NM_001287344.1:c.1275A>C	NP_001274273.1:p.Gly425=
NM_001287345.1:c.1038+861A>C	NP_001274274.1:n.1038+861A>C
NM_000061.3:c.1173A>C MANE Select	NP_000052.1:p.Gly391=
NM_001287344.2:c.1275A>C	NP_001274273.1:p.Gly425=
NM_001287345.2:c.1038+861A>C	NP_001274274.1:n.1038+861A>C