Canonical Allele Identifier: CA413917685

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349933G>C , CM000685.2:g.101349933G>C	GRCh38
NC_000023.10:g.100604921G>C , CM000685.1:g.100604921G>C	GRCh37
NC_000023.9:g.100491577G>C	NCBI36
NG_009616.1:g.41292C>G , LRG_128:g.41292C>G
NG_011734.1:g.4037C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1932C>G MANE Select	NP_000052.1:p.Phe644Leu
ENST00000308731.8:c.1932C>G MANE Select	ENSP00000308176.8:p.Phe644Leu
NM_000061.2:c.1932C>G , LRG_128t1:c.1932C>G	NP_000052.1:p.Phe644Leu
NM_001287344.1:c.2034C>G	NP_001274273.1:p.Phe678Leu
NM_001287344.2:c.2034C>G	NP_001274273.1:p.Phe678Leu
NM_001287345.1:c.1404C>G	NP_001274274.1:p.Phe468Leu
NM_001287345.2:c.1404C>G	NP_001274274.1:p.Phe468Leu
ENST00000308731.7:c.1932C>G	ENSP00000308176.7:p.Phe644Leu
ENST00000372880.5:c.1404C>G	ENSP00000361971.1:p.Phe468Leu
ENST00000478995.2:n.3449C>G
ENST00000488970.2:n.4088C>G
ENST00000618050.4:c.1931C>G	ENSP00000479125.1:n.1931C>G
ENST00000621635.4:c.2034C>G	ENSP00000483570.1:p.Phe678Leu
ENST00000695614.1:c.1932C>G	ENSP00000512053.1:p.Phe644Leu
ENST00000695615.1:c.1932C>G	ENSP00000512054.1:p.Phe644Leu
ENST00000695616.1:c.*1777C>G	ENSP00000512055.1:n.*1777C>G
ENST00000695617.1:c.1929C>G	ENSP00000512056.1:p.Phe643Leu
ENST00000695618.1:c.*1681C>G	ENSP00000512058.1:n.*1681C>G
ENST00000695619.1:c.*1642C>G	ENSP00000512059.1:n.*1642C>G
ENST00000695620.1:c.*1858C>G	ENSP00000512060.1:n.*1858C>G
ENST00000695621.1:c.*357C>G	ENSP00000512061.1:n.*357C>G
ENST00000695622.1:c.1869C>G	ENSP00000512062.1:p.Phe623Leu
ENST00000695623.1:c.1926C>G	ENSP00000512063.1:p.Phe642Leu
ENST00000695624.1:n.1237C>G
ENST00000695625.1:c.1899C>G	ENSP00000512064.1:p.Phe633Leu
ENST00000695626.1:c.687C>G	ENSP00000512065.1:n.687C>G
ENST00000695627.1:c.880C>G	ENSP00000512066.1:n.880C>G
ENST00000695628.1:c.491C>G	ENSP00000512067.1:n.491C>G
ENST00000695629.1:c.372C>G	ENSP00000512068.1:p.Phe124Leu
ENST00000695630.1:c.659C>G
ENST00000695631.1:c.193C>G
ENST00000703407.1:c.1404C>G	ENSP00000512057.1:p.Phe468Leu