Canonical Allele Identifier: CA413925273
Community Standard Title: NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356884T>A , CM000685.2:g.101356884T>A GRCh38
NC_000023.10:g.100611872T>A , CM000685.1:g.100611872T>A GRCh37
NC_000023.9:g.100498528T>A NCBI36
NG_009616.1:g.34341A>T , LRG_128:g.34341A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1249A>T MANE Select NP_000052.1:p.Lys417Ter
ENST00000308731.8:c.1249A>T MANE Select ENSP00000308176.8:p.Lys417Ter
NM_000061.2:c.1249A>T , LRG_128t1:c.1249A>T NP_000052.1:p.Lys417Ter
NM_001287344.1:c.1351A>T NP_001274273.1:p.Lys451Ter
NM_001287344.2:c.1351A>T NP_001274273.1:p.Lys451Ter
NM_001287345.1:c.1038+1490A>T NP_001274274.1:n.1038+1490A>T
NM_001287345.2:c.1038+1490A>T NP_001274274.1:n.1038+1490A>T
ENST00000308731.7:c.1249A>T ENSP00000308176.7:p.Lys417Ter
ENST00000372880.5:c.1038+1490A>T ENSP00000361971.1:n.1038+1490A>T
ENST00000470329.1:n.199A>T
ENST00000478995.2:n.1409A>T
ENST00000488970.2:n.1407A>T
ENST00000618050.4:c.1249A>T ENSP00000479125.1:p.Lys417Ter
ENST00000621635.4:c.1351A>T ENSP00000483570.1:p.Lys451Ter
ENST00000695614.1:c.1249A>T ENSP00000512053.1:p.Lys417Ter
ENST00000695615.1:c.1249A>T ENSP00000512054.1:p.Lys417Ter
ENST00000695616.1:c.*1094A>T ENSP00000512055.1:n.*1094A>T
ENST00000695617.1:c.1246A>T ENSP00000512056.1:p.Lys416Ter
ENST00000695618.1:c.*998A>T ENSP00000512058.1:n.*998A>T
ENST00000695619.1:c.*959A>T ENSP00000512059.1:n.*959A>T
ENST00000695620.1:c.*1094A>T ENSP00000512060.1:n.*1094A>T
ENST00000695621.1:c.1249A>T ENSP00000512061.1:p.Lys417Ter
ENST00000695622.1:c.1186A>T ENSP00000512062.1:p.Lys396Ter
ENST00000695623.1:c.1243A>T ENSP00000512063.1:p.Lys415Ter
ENST00000695624.1:n.554A>T
ENST00000695625.1:c.1249A>T ENSP00000512064.1:p.Lys417Ter
ENST00000695626.1:c.221A>T ENSP00000512065.1:p.Glu74Val
ENST00000695627.1:c.262A>T ENSP00000512066.1:p.Lys88Ter
ENST00000695628.1:c.190+625A>T ENSP00000512067.1:n.190+625A>T
ENST00000695629.1:c.190+625A>T ENSP00000512068.1:n.190+625A>T
ENST00000695630.1:c.258A>T
ENST00000695631.1:c.114+1426A>T
ENST00000695632.1:n.266A>T
ENST00000703407.1:c.1038+1490A>T ENSP00000512057.1:n.1038+1490A>T