Canonical Allele Identifier: CA2448284322
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356858G= , CM000685.2:g.101356858G= GRCh38
NC_000023.10:g.100611846G= , CM000685.1:g.100611846G= GRCh37
NC_000023.9:g.100498502G= NCBI36
NG_009616.1:g.34367C= , LRG_128:g.34367C=

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.1435C=
ENST00000488970.2:n.1433C=
ENST00000695614.1:c.1275C= ENSP00000512053.1:p.Tyr425=
ENST00000695615.1:c.1275C= ENSP00000512054.1:p.Tyr425=
ENST00000695616.1:c.*1120C= ENSP00000512055.1:n.*1120C=
ENST00000695617.1:c.1272C= ENSP00000512056.1:p.Tyr424=
ENST00000695618.1:c.*1024C= ENSP00000512058.1:n.*1024C=
ENST00000695619.1:c.*985C= ENSP00000512059.1:n.*985C=
ENST00000695620.1:c.*1120C= ENSP00000512060.1:n.*1120C=
ENST00000695621.1:c.1275C= ENSP00000512061.1:p.Tyr425=
ENST00000695622.1:c.1212C= ENSP00000512062.1:p.Tyr404=
ENST00000695623.1:c.1269C= ENSP00000512063.1:p.Tyr423=
ENST00000695624.1:n.580C=
ENST00000695625.1:c.1275C= ENSP00000512064.1:p.Tyr425=
ENST00000695626.1:c.247C= ENSP00000512065.1:p.Arg83=
ENST00000695627.1:c.288C= ENSP00000512066.1:p.Tyr96=
ENST00000695628.1:c.190+651C= ENSP00000512067.1:n.190+651C=
ENST00000695629.1:c.190+651C= ENSP00000512068.1:n.190+651C=
ENST00000695630.1:c.284C=
ENST00000695631.1:c.114+1452C=
ENST00000695632.1:n.292C=
ENST00000703407.1:c.1038+1516C= ENSP00000512057.1:n.1038+1516C=
ENST00000308731.8:c.1275C= MANE Select ENSP00000308176.8:p.Tyr425=
ENST00000308731.7:c.1275C= ENSP00000308176.7:p.Tyr425=
ENST00000372880.5:c.1038+1516C= ENSP00000361971.1:n.1038+1516C=
ENST00000470329.1:n.225C=
ENST00000618050.4:c.1275C= ENSP00000479125.1:p.Tyr425=
ENST00000621635.4:c.1377C= ENSP00000483570.1:p.Tyr459=
NM_000061.2:c.1275C= , LRG_128t1:c.1275C= NP_000052.1:p.Tyr425=
NM_001287344.1:c.1377C= NP_001274273.1:p.Tyr459=
NM_001287345.1:c.1038+1516C= NP_001274274.1:n.1038+1516C=
NM_000061.3:c.1275C= MANE Select NP_000052.1:p.Tyr425=
NM_001287344.2:c.1377C= NP_001274273.1:p.Tyr459=
NM_001287345.2:c.1038+1516C= NP_001274274.1:n.1038+1516C=