Canonical Allele Identifier: CA2448283231
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353936G= , CM000685.2:g.101353936G= GRCh38
NC_000023.10:g.100608924G= , CM000685.1:g.100608924G= GRCh37
NC_000023.9:g.100495580G= NCBI36
NG_009616.1:g.37289C= , LRG_128:g.37289C=
NG_011734.1:g.34C=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1684C= MANE Select NP_000052.1:p.Arg562=
ENST00000308731.8:c.1684C= MANE Select ENSP00000308176.8:p.Arg562=
NM_000061.2:c.1684C= , LRG_128t1:c.1684C= NP_000052.1:p.Arg562=
NM_001287344.1:c.1786C= NP_001274273.1:p.Arg596=
NM_001287344.2:c.1786C= NP_001274273.1:p.Arg596=
NM_001287345.1:c.1156C= NP_001274274.1:p.Arg386=
NM_001287345.2:c.1156C= NP_001274274.1:p.Arg386=
ENST00000308731.7:c.1684C= ENSP00000308176.7:p.Arg562=
ENST00000372880.5:c.1156C= ENSP00000361971.1:p.Arg386=
ENST00000470069.1:n.49C=
ENST00000478995.2:n.3201C=
ENST00000488970.1:n.286C=
ENST00000488970.2:n.3840C=
ENST00000618050.4:c.1684C= ENSP00000479125.1:p.Arg562=
ENST00000621635.4:c.1786C= ENSP00000483570.1:p.Arg596=
ENST00000695614.1:c.1684C= ENSP00000512053.1:p.Arg562=
ENST00000695615.1:c.1684C= ENSP00000512054.1:p.Arg562=
ENST00000695616.1:c.*1529C= ENSP00000512055.1:n.*1529C=
ENST00000695617.1:c.1681C= ENSP00000512056.1:p.Arg561=
ENST00000695618.1:c.*1433C= ENSP00000512058.1:n.*1433C=
ENST00000695619.1:c.*1394C= ENSP00000512059.1:n.*1394C=
ENST00000695620.1:c.*1610C= ENSP00000512060.1:n.*1610C=
ENST00000695621.1:c.*109C= ENSP00000512061.1:n.*109C=
ENST00000695622.1:c.1621C= ENSP00000512062.1:p.Arg541=
ENST00000695623.1:c.1678C= ENSP00000512063.1:p.Arg560=
ENST00000695624.1:n.989C=
ENST00000695625.1:c.1684C= ENSP00000512064.1:p.Arg562=
ENST00000695626.1:c.439C= ENSP00000512065.1:n.439C=
ENST00000695627.1:c.632C= ENSP00000512066.1:n.632C=
ENST00000695628.1:c.243C= ENSP00000512067.1:n.243C=
ENST00000695629.1:c.191-585C= ENSP00000512068.1:n.191-585C=
ENST00000695630.1:c.411C=
ENST00000695631.1:c.115-688C=
ENST00000695632.1:n.484C=
ENST00000703407.1:c.1156C= ENSP00000512057.1:p.Arg386=