Canonical Allele Identifier: CA2697544649

Gene: BTK

Linked Data

• ClinVar Variation Id: 2755286
• ClinVar RCV Id: RCV003511831

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353187C>A , CM000685.2:g.101353187C>A	GRCh38
NC_000023.10:g.100608175C>A , CM000685.1:g.100608175C>A	GRCh37
NC_000023.9:g.100494831C>A	NCBI36
NG_009616.1:g.38038G>T , LRG_128:g.38038G>T
NG_011734.1:g.783G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3425+7G>T
ENST00000488970.2:n.4064+7G>T
ENST00000695614.1:c.1908+7G>T	ENSP00000512053.1:n.1908+7G>T
ENST00000695615.1:c.1908+7G>T	ENSP00000512054.1:n.1908+7G>T
ENST00000695616.1:c.*1753+7G>T	ENSP00000512055.1:n.*1753+7G>T
ENST00000695617.1:c.1905+7G>T	ENSP00000512056.1:n.1905+7G>T
ENST00000695618.1:c.*1657+7G>T	ENSP00000512058.1:n.*1657+7G>T
ENST00000695619.1:c.*1618+7G>T	ENSP00000512059.1:n.*1618+7G>T
ENST00000695620.1:c.*1834+7G>T	ENSP00000512060.1:n.*1834+7G>T
ENST00000695621.1:c.*333+7G>T	ENSP00000512061.1:n.*333+7G>T
ENST00000695622.1:c.1845+7G>T	ENSP00000512062.1:n.1845+7G>T
ENST00000695623.1:c.1902+7G>T	ENSP00000512063.1:n.1902+7G>T
ENST00000695624.1:n.1213+7G>T
ENST00000695625.1:c.1875+40G>T	ENSP00000512064.1:n.1875+40G>T
ENST00000695626.1:c.663+7G>T	ENSP00000512065.1:n.663+7G>T
ENST00000695627.1:c.856+7G>T	ENSP00000512066.1:n.856+7G>T
ENST00000695628.1:c.467+7G>T	ENSP00000512067.1:n.467+7G>T
ENST00000695629.1:c.348+7G>T	ENSP00000512068.1:n.348+7G>T
ENST00000695630.1:c.635+7G>T
ENST00000695631.1:c.169+7G>T
ENST00000703407.1:c.1380+7G>T	ENSP00000512057.1:n.1380+7G>T
ENST00000308731.8:c.1908+7G>T MANE Select	ENSP00000308176.8:n.1908+7G>T
ENST00000308731.7:c.1908+7G>T	ENSP00000308176.7:n.1908+7G>T
ENST00000372880.5:c.1380+7G>T	ENSP00000361971.1:n.1380+7G>T
ENST00000470069.1:n.280G>T
ENST00000618050.4:c.1907+7G>T	ENSP00000479125.1:n.1907+7G>T
ENST00000621635.4:c.2010+7G>T	ENSP00000483570.1:n.2010+7G>T
NM_000061.2:c.1908+7G>T , LRG_128t1:c.1908+7G>T	NP_000052.1:n.1908+7G>T
NM_001287344.1:c.2010+7G>T	NP_001274273.1:n.2010+7G>T
NM_001287345.1:c.1380+7G>T	NP_001274274.1:n.1380+7G>T
NM_000061.3:c.1908+7G>T MANE Select	NP_000052.1:n.1908+7G>T
NM_001287344.2:c.2010+7G>T	NP_001274273.1:n.2010+7G>T
NM_001287345.2:c.1380+7G>T	NP_001274274.1:n.1380+7G>T