Canonical Allele Identifier: CA413919206

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608286T>C (hg19) ; chrX:g.101353298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353298T>C , CM000685.2:g.101353298T>C	GRCh38
NC_000023.10:g.100608286T>C , CM000685.1:g.100608286T>C	GRCh37
NC_000023.9:g.100494942T>C	NCBI36
NG_009616.1:g.37927A>G , LRG_128:g.37927A>G
NG_011734.1:g.672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3321A>G
ENST00000488970.2:n.3960A>G
ENST00000695614.1:c.1804A>G	ENSP00000512053.1:p.Thr602Ala
ENST00000695615.1:c.1804A>G	ENSP00000512054.1:p.Thr602Ala
ENST00000695616.1:c.*1649A>G	ENSP00000512055.1:n.*1649A>G
ENST00000695617.1:c.1801A>G	ENSP00000512056.1:p.Thr601Ala
ENST00000695618.1:c.*1553A>G	ENSP00000512058.1:n.*1553A>G
ENST00000695619.1:c.*1514A>G	ENSP00000512059.1:n.*1514A>G
ENST00000695620.1:c.*1730A>G	ENSP00000512060.1:n.*1730A>G
ENST00000695621.1:c.*229A>G	ENSP00000512061.1:n.*229A>G
ENST00000695622.1:c.1741A>G	ENSP00000512062.1:p.Thr581Ala
ENST00000695623.1:c.1798A>G	ENSP00000512063.1:p.Thr600Ala
ENST00000695624.1:n.1109A>G
ENST00000695625.1:c.1804A>G	ENSP00000512064.1:p.Thr602Ala
ENST00000695626.1:c.559A>G	ENSP00000512065.1:n.559A>G
ENST00000695627.1:c.752A>G	ENSP00000512066.1:n.752A>G
ENST00000695628.1:c.363A>G	ENSP00000512067.1:n.363A>G
ENST00000695629.1:c.244A>G	ENSP00000512068.1:p.Thr82Ala
ENST00000695630.1:c.531A>G
ENST00000695631.1:c.115-50A>G
ENST00000703407.1:c.1276A>G	ENSP00000512057.1:p.Thr426Ala
ENST00000308731.8:c.1804A>G MANE Select	ENSP00000308176.8:p.Thr602Ala
ENST00000308731.7:c.1804A>G	ENSP00000308176.7:p.Thr602Ala
ENST00000372880.5:c.1276A>G	ENSP00000361971.1:p.Thr426Ala
ENST00000470069.1:n.169A>G
ENST00000618050.4:c.1803A>G	ENSP00000479125.1:n.1803A>G
ENST00000621635.4:c.1906A>G	ENSP00000483570.1:p.Thr636Ala
NM_000061.2:c.1804A>G , LRG_128t1:c.1804A>G	NP_000052.1:p.Thr602Ala
NM_001287344.1:c.1906A>G	NP_001274273.1:p.Thr636Ala
NM_001287345.1:c.1276A>G	NP_001274274.1:p.Thr426Ala
NM_000061.3:c.1804A>G MANE Select	NP_000052.1:p.Thr602Ala
NM_001287344.2:c.1906A>G	NP_001274273.1:p.Thr636Ala
NM_001287345.2:c.1276A>G	NP_001274274.1:p.Thr426Ala