Canonical Allele Identifier: CA413919132

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608277C>G (hg19) ; chrX:g.101353289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353289C>G , CM000685.2:g.101353289C>G	GRCh38
NC_000023.10:g.100608277C>G , CM000685.1:g.100608277C>G	GRCh37
NC_000023.9:g.100494933C>G	NCBI36
NG_009616.1:g.37936G>C , LRG_128:g.37936G>C
NG_011734.1:g.681G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3330G>C
ENST00000488970.2:n.3969G>C
ENST00000695614.1:c.1813G>C	ENSP00000512053.1:p.Glu605Gln
ENST00000695615.1:c.1813G>C	ENSP00000512054.1:p.Glu605Gln
ENST00000695616.1:c.*1658G>C	ENSP00000512055.1:n.*1658G>C
ENST00000695617.1:c.1810G>C	ENSP00000512056.1:p.Glu604Gln
ENST00000695618.1:c.*1562G>C	ENSP00000512058.1:n.*1562G>C
ENST00000695619.1:c.*1523G>C	ENSP00000512059.1:n.*1523G>C
ENST00000695620.1:c.*1739G>C	ENSP00000512060.1:n.*1739G>C
ENST00000695621.1:c.*238G>C	ENSP00000512061.1:n.*238G>C
ENST00000695622.1:c.1750G>C	ENSP00000512062.1:p.Glu584Gln
ENST00000695623.1:c.1807G>C	ENSP00000512063.1:p.Glu603Gln
ENST00000695624.1:n.1118G>C
ENST00000695625.1:c.1813G>C	ENSP00000512064.1:p.Glu605Gln
ENST00000695626.1:c.568G>C	ENSP00000512065.1:n.568G>C
ENST00000695627.1:c.761G>C	ENSP00000512066.1:n.761G>C
ENST00000695628.1:c.372G>C	ENSP00000512067.1:n.372G>C
ENST00000695629.1:c.253G>C	ENSP00000512068.1:p.Glu85Gln
ENST00000695630.1:c.540G>C
ENST00000695631.1:c.115-41G>C
ENST00000703407.1:c.1285G>C	ENSP00000512057.1:p.Glu429Gln
ENST00000308731.8:c.1813G>C MANE Select	ENSP00000308176.8:p.Glu605Gln
ENST00000308731.7:c.1813G>C	ENSP00000308176.7:p.Glu605Gln
ENST00000372880.5:c.1285G>C	ENSP00000361971.1:p.Glu429Gln
ENST00000470069.1:n.178G>C
ENST00000618050.4:c.1812G>C	ENSP00000479125.1:n.1812G>C
ENST00000621635.4:c.1915G>C	ENSP00000483570.1:p.Glu639Gln
NM_000061.2:c.1813G>C , LRG_128t1:c.1813G>C	NP_000052.1:p.Glu605Gln
NM_001287344.1:c.1915G>C	NP_001274273.1:p.Glu639Gln
NM_001287345.1:c.1285G>C	NP_001274274.1:p.Glu429Gln
NM_000061.3:c.1813G>C MANE Select	NP_000052.1:p.Glu605Gln
NM_001287344.2:c.1915G>C	NP_001274273.1:p.Glu639Gln
NM_001287345.2:c.1285G>C	NP_001274274.1:p.Glu429Gln