Canonical Allele Identifier: CA413925190
Community Standard Title: NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356871C>T , CM000685.2:g.101356871C>T GRCh38
NC_000023.10:g.100611859C>T , CM000685.1:g.100611859C>T GRCh37
NC_000023.9:g.100498515C>T NCBI36
NG_009616.1:g.34354G>A , LRG_128:g.34354G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1262G>A MANE Select NP_000052.1:p.Trp421Ter
ENST00000308731.8:c.1262G>A MANE Select ENSP00000308176.8:p.Trp421Ter
NM_000061.2:c.1262G>A , LRG_128t1:c.1262G>A NP_000052.1:p.Trp421Ter
NM_001287344.1:c.1364G>A NP_001274273.1:p.Trp455Ter
NM_001287344.2:c.1364G>A NP_001274273.1:p.Trp455Ter
NM_001287345.1:c.1038+1503G>A NP_001274274.1:n.1038+1503G>A
NM_001287345.2:c.1038+1503G>A NP_001274274.1:n.1038+1503G>A
ENST00000308731.7:c.1262G>A ENSP00000308176.7:p.Trp421Ter
ENST00000372880.5:c.1038+1503G>A ENSP00000361971.1:n.1038+1503G>A
ENST00000470329.1:n.212G>A
ENST00000478995.2:n.1422G>A
ENST00000488970.2:n.1420G>A
ENST00000618050.4:c.1262G>A ENSP00000479125.1:p.Trp421Ter
ENST00000621635.4:c.1364G>A ENSP00000483570.1:p.Trp455Ter
ENST00000695614.1:c.1262G>A ENSP00000512053.1:p.Trp421Ter
ENST00000695615.1:c.1262G>A ENSP00000512054.1:p.Trp421Ter
ENST00000695616.1:c.*1107G>A ENSP00000512055.1:n.*1107G>A
ENST00000695617.1:c.1259G>A ENSP00000512056.1:p.Trp420Ter
ENST00000695618.1:c.*1011G>A ENSP00000512058.1:n.*1011G>A
ENST00000695619.1:c.*972G>A ENSP00000512059.1:n.*972G>A
ENST00000695620.1:c.*1107G>A ENSP00000512060.1:n.*1107G>A
ENST00000695621.1:c.1262G>A ENSP00000512061.1:p.Trp421Ter
ENST00000695622.1:c.1199G>A ENSP00000512062.1:p.Trp400Ter
ENST00000695623.1:c.1256G>A ENSP00000512063.1:p.Trp419Ter
ENST00000695624.1:n.567G>A
ENST00000695625.1:c.1262G>A ENSP00000512064.1:p.Trp421Ter
ENST00000695626.1:c.234G>A ENSP00000512065.1:p.Met78Ile
ENST00000695627.1:c.275G>A ENSP00000512066.1:p.Trp92Ter
ENST00000695628.1:c.190+638G>A ENSP00000512067.1:n.190+638G>A
ENST00000695629.1:c.190+638G>A ENSP00000512068.1:n.190+638G>A
ENST00000695630.1:c.271G>A
ENST00000695631.1:c.114+1439G>A
ENST00000695632.1:n.279G>A
ENST00000703407.1:c.1038+1503G>A ENSP00000512057.1:n.1038+1503G>A