Canonical Allele Identifier: CA2448283230
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353935C= , CM000685.2:g.101353935C= GRCh38
NC_000023.10:g.100608923C= , CM000685.1:g.100608923C= GRCh37
NC_000023.9:g.100495579C= NCBI36
NG_009616.1:g.37290G= , LRG_128:g.37290G=
NG_011734.1:g.35G=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1685G= MANE Select NP_000052.1:p.Arg562=
ENST00000308731.8:c.1685G= MANE Select ENSP00000308176.8:p.Arg562=
NM_000061.2:c.1685G= , LRG_128t1:c.1685G= NP_000052.1:p.Arg562=
NM_001287344.1:c.1787G= NP_001274273.1:p.Arg596=
NM_001287344.2:c.1787G= NP_001274273.1:p.Arg596=
NM_001287345.1:c.1157G= NP_001274274.1:p.Arg386=
NM_001287345.2:c.1157G= NP_001274274.1:p.Arg386=
ENST00000308731.7:c.1685G= ENSP00000308176.7:p.Arg562=
ENST00000372880.5:c.1157G= ENSP00000361971.1:p.Arg386=
ENST00000470069.1:n.50G=
ENST00000478995.2:n.3202G=
ENST00000488970.1:n.287G=
ENST00000488970.2:n.3841G=
ENST00000618050.4:c.1685G= ENSP00000479125.1:p.Arg562=
ENST00000621635.4:c.1787G= ENSP00000483570.1:p.Arg596=
ENST00000695614.1:c.1685G= ENSP00000512053.1:p.Arg562=
ENST00000695615.1:c.1685G= ENSP00000512054.1:p.Arg562=
ENST00000695616.1:c.*1530G= ENSP00000512055.1:n.*1530G=
ENST00000695617.1:c.1682G= ENSP00000512056.1:p.Arg561=
ENST00000695618.1:c.*1434G= ENSP00000512058.1:n.*1434G=
ENST00000695619.1:c.*1395G= ENSP00000512059.1:n.*1395G=
ENST00000695620.1:c.*1611G= ENSP00000512060.1:n.*1611G=
ENST00000695621.1:c.*110G= ENSP00000512061.1:n.*110G=
ENST00000695622.1:c.1622G= ENSP00000512062.1:p.Arg541=
ENST00000695623.1:c.1679G= ENSP00000512063.1:p.Arg560=
ENST00000695624.1:n.990G=
ENST00000695625.1:c.1685G= ENSP00000512064.1:p.Arg562=
ENST00000695626.1:c.440G= ENSP00000512065.1:n.440G=
ENST00000695627.1:c.633G= ENSP00000512066.1:n.633G=
ENST00000695628.1:c.244G= ENSP00000512067.1:n.244G=
ENST00000695629.1:c.191-584G= ENSP00000512068.1:n.191-584G=
ENST00000695630.1:c.412G=
ENST00000695631.1:c.115-687G=
ENST00000695632.1:n.485G=
ENST00000703407.1:c.1157G= ENSP00000512057.1:p.Arg386=