Canonical Allele Identifier: CA517529462

Gene: BTK

Linked Data

• dbSNP Id: rs1639197227
• gnomAD v4: X-101353197-A-G
• MyVariant Identifiers: chrX:g.100608185A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353197A>G , CM000685.2:g.101353197A>G	GRCh38
NC_000023.10:g.100608185A>G , CM000685.1:g.100608185A>G	GRCh37
NC_000023.9:g.100494841A>G	NCBI36
NG_009616.1:g.38028T>C , LRG_128:g.38028T>C
NG_011734.1:g.773T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3422T>C
ENST00000488970.2:n.4061T>C
ENST00000695614.1:c.1905T>C	ENSP00000512053.1:p.His635=
ENST00000695615.1:c.1905T>C	ENSP00000512054.1:p.His635=
ENST00000695616.1:c.*1750T>C	ENSP00000512055.1:n.*1750T>C
ENST00000695617.1:c.1902T>C	ENSP00000512056.1:p.His634=
ENST00000695618.1:c.*1654T>C	ENSP00000512058.1:n.*1654T>C
ENST00000695619.1:c.*1615T>C	ENSP00000512059.1:n.*1615T>C
ENST00000695620.1:c.*1831T>C	ENSP00000512060.1:n.*1831T>C
ENST00000695621.1:c.*330T>C	ENSP00000512061.1:n.*330T>C
ENST00000695622.1:c.1842T>C	ENSP00000512062.1:p.His614=
ENST00000695623.1:c.1899T>C	ENSP00000512063.1:p.His633=
ENST00000695624.1:n.1210T>C
ENST00000695625.1:c.1875+30T>C	ENSP00000512064.1:n.1875+30T>C
ENST00000695626.1:c.660T>C	ENSP00000512065.1:n.660T>C
ENST00000695627.1:c.853T>C	ENSP00000512066.1:n.853T>C
ENST00000695628.1:c.464T>C	ENSP00000512067.1:n.464T>C
ENST00000695629.1:c.345T>C	ENSP00000512068.1:p.His115=
ENST00000695630.1:c.632T>C
ENST00000695631.1:c.166T>C
ENST00000703407.1:c.1377T>C	ENSP00000512057.1:p.His459=
ENST00000308731.8:c.1905T>C MANE Select	ENSP00000308176.8:p.His635=
ENST00000308731.7:c.1905T>C	ENSP00000308176.7:p.His635=
ENST00000372880.5:c.1377T>C	ENSP00000361971.1:p.His459=
ENST00000470069.1:n.270T>C
ENST00000618050.4:c.1904T>C	ENSP00000479125.1:n.1904T>C
ENST00000621635.4:c.2007T>C	ENSP00000483570.1:p.His669=
NM_000061.2:c.1905T>C , LRG_128t1:c.1905T>C	NP_000052.1:p.His635=
NM_001287344.1:c.2007T>C	NP_001274273.1:p.His669=
NM_001287345.1:c.1377T>C	NP_001274274.1:p.His459=
NM_000061.3:c.1905T>C MANE Select	NP_000052.1:p.His635=
NM_001287344.2:c.2007T>C	NP_001274273.1:p.His669=
NM_001287345.2:c.1377T>C	NP_001274274.1:p.His459=