Canonical Allele Identifier: CA413919306

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608295C>A (hg19) ; chrX:g.101353307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353307C>A , CM000685.2:g.101353307C>A	GRCh38
NC_000023.10:g.100608295C>A , CM000685.1:g.100608295C>A	GRCh37
NC_000023.9:g.100494951C>A	NCBI36
NG_009616.1:g.37918G>T , LRG_128:g.37918G>T
NG_011734.1:g.663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3312G>T
ENST00000488970.2:n.3951G>T
ENST00000695614.1:c.1795G>T	ENSP00000512053.1:p.Glu599Ter
ENST00000695615.1:c.1795G>T	ENSP00000512054.1:p.Glu599Ter
ENST00000695616.1:c.*1640G>T	ENSP00000512055.1:n.*1640G>T
ENST00000695617.1:c.1792G>T	ENSP00000512056.1:p.Glu598Ter
ENST00000695618.1:c.*1544G>T	ENSP00000512058.1:n.*1544G>T
ENST00000695619.1:c.*1505G>T	ENSP00000512059.1:n.*1505G>T
ENST00000695620.1:c.*1721G>T	ENSP00000512060.1:n.*1721G>T
ENST00000695621.1:c.*220G>T	ENSP00000512061.1:n.*220G>T
ENST00000695622.1:c.1732G>T	ENSP00000512062.1:p.Glu578Ter
ENST00000695623.1:c.1789G>T	ENSP00000512063.1:p.Glu597Ter
ENST00000695624.1:n.1100G>T
ENST00000695625.1:c.1795G>T	ENSP00000512064.1:p.Glu599Ter
ENST00000695626.1:c.550G>T	ENSP00000512065.1:n.550G>T
ENST00000695627.1:c.743G>T	ENSP00000512066.1:n.743G>T
ENST00000695628.1:c.354G>T	ENSP00000512067.1:n.354G>T
ENST00000695629.1:c.235G>T	ENSP00000512068.1:p.Glu79Ter
ENST00000695630.1:c.522G>T
ENST00000695631.1:c.115-59G>T
ENST00000703407.1:c.1267G>T	ENSP00000512057.1:p.Glu423Ter
ENST00000308731.8:c.1795G>T MANE Select	ENSP00000308176.8:p.Glu599Ter
ENST00000308731.7:c.1795G>T	ENSP00000308176.7:p.Glu599Ter
ENST00000372880.5:c.1267G>T	ENSP00000361971.1:p.Glu423Ter
ENST00000470069.1:n.160G>T
ENST00000618050.4:c.1794G>T	ENSP00000479125.1:n.1794G>T
ENST00000621635.4:c.1897G>T	ENSP00000483570.1:p.Glu633Ter
NM_000061.2:c.1795G>T , LRG_128t1:c.1795G>T	NP_000052.1:p.Glu599Ter
NM_001287344.1:c.1897G>T	NP_001274273.1:p.Glu633Ter
NM_001287345.1:c.1267G>T	NP_001274274.1:p.Glu423Ter
NM_000061.3:c.1795G>T MANE Select	NP_000052.1:p.Glu599Ter
NM_001287344.2:c.1897G>T	NP_001274273.1:p.Glu633Ter
NM_001287345.2:c.1267G>T	NP_001274274.1:p.Glu423Ter