Canonical Allele Identifier: CA2448284781
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359296T= , CM000685.2:g.101359296T= GRCh38
NC_000023.10:g.100614284T= , CM000685.1:g.100614284T= GRCh37
NC_000023.9:g.100500940T= NCBI36
NG_009616.1:g.31929A= , LRG_128:g.31929A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000464006.2:n.671A=
ENST00000478995.2:n.1051A=
ENST00000488970.2:n.1049A=
ENST00000695614.1:c.891A= ENSP00000512053.1:p.Gln297=
ENST00000695615.1:c.891A= ENSP00000512054.1:p.Gln297=
ENST00000695616.1:c.*736A= ENSP00000512055.1:n.*736A=
ENST00000695617.1:c.888A= ENSP00000512056.1:p.Gln296=
ENST00000695618.1:c.*640A= ENSP00000512058.1:n.*640A=
ENST00000695619.1:c.*684+792A= ENSP00000512059.1:n.*684+792A=
ENST00000695620.1:c.*736A= ENSP00000512060.1:n.*736A=
ENST00000695621.1:c.891A= ENSP00000512061.1:p.Gln297=
ENST00000695622.1:c.828A= ENSP00000512062.1:p.Gln276=
ENST00000695623.1:c.885A= ENSP00000512063.1:p.Gln295=
ENST00000695624.1:n.196A=
ENST00000695625.1:c.891A= ENSP00000512064.1:p.Gln297=
ENST00000703407.1:c.891A= ENSP00000512057.1:p.Gln297=
ENST00000308731.8:c.891A= MANE Select ENSP00000308176.8:p.Gln297=
ENST00000308731.7:c.891A= ENSP00000308176.7:p.Gln297=
ENST00000372880.5:c.891A= ENSP00000361971.1:p.Gln297=
ENST00000618050.4:c.891A= ENSP00000479125.1:p.Gln297=
ENST00000621635.4:c.993A= ENSP00000483570.1:p.Gln331=
NM_000061.2:c.891A= , LRG_128t1:c.891A= NP_000052.1:p.Gln297=
NM_001287344.1:c.993A= NP_001274273.1:p.Gln331=
NM_001287345.1:c.891A= NP_001274274.1:p.Gln297=
NM_000061.3:c.891A= MANE Select NP_000052.1:p.Gln297=
NM_001287344.2:c.993A= NP_001274273.1:p.Gln331=
NM_001287345.2:c.891A= NP_001274274.1:p.Gln297=