Canonical Allele Identifier: CA413928637

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358438C>A , CM000685.2:g.101358438C>A	GRCh38
NC_000023.10:g.100613426C>A , CM000685.1:g.100613426C>A	GRCh37
NC_000023.9:g.100500082C>A	NCBI36
NG_009616.1:g.32787G>T , LRG_128:g.32787G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.975-1G>T MANE Select	NP_000052.1:n.975-1G>T
ENST00000308731.8:c.975-1G>T MANE Select	ENSP00000308176.8:n.975-1G>T
NM_000061.2:c.975-1G>T , LRG_128t1:c.975-1G>T	NP_000052.1:n.975-1G>T
NM_001287344.1:c.1077-1G>T	NP_001274273.1:n.1077-1G>T
NM_001287344.2:c.1077-1G>T	NP_001274273.1:n.1077-1G>T
NM_001287345.1:c.975-1G>T	NP_001274274.1:n.975-1G>T
NM_001287345.2:c.975-1G>T	NP_001274274.1:n.975-1G>T
ENST00000308731.7:c.975-1G>T	ENSP00000308176.7:n.975-1G>T
ENST00000372880.5:c.975-1G>T	ENSP00000361971.1:n.975-1G>T
ENST00000464006.2:n.755-1G>T
ENST00000478995.2:n.1135-1G>T
ENST00000488970.2:n.1133-1G>T
ENST00000618050.4:c.975-1G>T	ENSP00000479125.1:n.975-1G>T
ENST00000621635.4:c.1077-1G>T	ENSP00000483570.1:n.1077-1G>T
ENST00000695614.1:c.975-1G>T	ENSP00000512053.1:n.975-1G>T
ENST00000695615.1:c.975-1G>T	ENSP00000512054.1:n.975-1G>T
ENST00000695616.1:c.*820-1G>T	ENSP00000512055.1:n.*820-1G>T
ENST00000695617.1:c.972-1G>T	ENSP00000512056.1:n.972-1G>T
ENST00000695618.1:c.*724-1G>T	ENSP00000512058.1:n.*724-1G>T
ENST00000695619.1:c.*685-1G>T	ENSP00000512059.1:n.*685-1G>T
ENST00000695620.1:c.*820-1G>T	ENSP00000512060.1:n.*820-1G>T
ENST00000695621.1:c.975-1G>T	ENSP00000512061.1:n.975-1G>T
ENST00000695622.1:c.912-1G>T	ENSP00000512062.1:n.912-1G>T
ENST00000695623.1:c.969-1G>T	ENSP00000512063.1:n.969-1G>T
ENST00000695624.1:n.280-1G>T
ENST00000695625.1:c.975-1G>T	ENSP00000512064.1:n.975-1G>T
ENST00000703407.1:c.975-1G>T	ENSP00000512057.1:n.975-1G>T