Canonical Allele Identifier: CA4732075
Community Standard Title: NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met)
Gene: IKBKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42320832C>T , CM000670.2:g.42320832C>T GRCh38
NC_000008.10:g.42178350C>T , CM000670.1:g.42178350C>T GRCh37
NC_000008.9:g.42297507C>T NCBI36
NG_041793.1:g.54531C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001556.3:c.1676C>T MANE Select NP_001547.1:p.Thr559Met
ENST00000520810.6:c.1676C>T MANE Select ENSP00000430684.1:p.Thr559Met
NM_001190720.2:c.1670C>T NP_001177649.1:p.Thr557Met
NM_001190720.3:c.1484C>T NP_001177649.2:p.Thr495Met
NM_001242778.1:c.1499C>T NP_001229707.1:p.Thr500Met
NM_001242778.2:c.1499C>T NP_001229707.1:p.Thr500Met
NM_001556.2:c.1676C>T NP_001547.1:p.Thr559Met
NR_033818.1:n.1918C>T
NR_033818.2:n.1918C>T
NR_033819.1:n.1800C>T
NR_033819.2:n.1800C>T
NR_040009.1:n.1809C>T
NR_040009.2:n.1809C>T
ENST00000342222.6:c.*1237C>T ENSP00000339151.2:n.*1237C>T
ENST00000416505.5:c.1499C>T ENSP00000404920.2:p.Thr500Met
ENST00000416505.7:c.1277C>T
ENST00000517890.5:c.*1434C>T ENSP00000428799.1:n.*1434C>T
ENST00000518679.5:c.*957C>T ENSP00000430557.1:n.*957C>T
ENST00000519938.5:n.127C>T
ENST00000520201.5:n.2931C>T
ENST00000520655.5:c.1614C>T ENSP00000428922.1:p.Asn538=
ENST00000520810.5:c.1676C>T ENSP00000430684.1:p.Thr559Met
ENST00000520835.5:c.1670C>T ENSP00000430868.1:p.Thr557Met
ENST00000520835.7:c.1484C>T ENSP00000430868.2:p.Thr495Met
ENST00000521661.5:c.1614C>T ENSP00000428186.1:p.Asn538=
ENST00000522147.4:c.106-10375C>T ENSP00000428892.1:n.106-10375C>T
ENST00000523105.5:c.*1372C>T ENSP00000429239.1:n.*1372C>T
ENST00000523517.5:c.*495C>T ENSP00000430114.1:n.*495C>T
ENST00000523599.2:n.364C>T
ENST00000629753.1:c.1614C>T ENSP00000486961.1:p.Asn538=
ENST00000629753.2:c.*1490C>T ENSP00000486961.2:n.*1490C>T
ENST00000648136.2:n.2638C>T
ENST00000649612.3:c.1378C>T
ENST00000676525.1:c.1276C>T ENSP00000503997.1:n.1276C>T
XM_005273490.1:c.1676C>T XP_005273547.1:p.Thr559Met
XM_005273490.3:c.1676C>T XP_005273547.1:p.Thr559Met
XM_005273491.3:c.1499C>T XP_005273548.1:p.Thr500Met
XM_005273491.5:c.1499C>T XP_005273548.1:p.Thr500Met
XM_005273492.2:c.1676C>T XP_005273549.1:p.Thr559Met
XM_005273492.4:c.1676C>T XP_005273549.1:p.Thr559Met
XM_005273493.2:c.1361C>T XP_005273550.1:p.Thr454Met
XM_005273493.4:c.1361C>T XP_005273550.1:p.Thr454Met
XM_005273494.1:c.1676C>T XP_005273551.1:p.Thr559Met
XM_005273494.3:c.1676C>T XP_005273551.1:p.Thr559Met
XM_005273495.1:c.1046C>T XP_005273552.1:p.Thr349Met
XM_005273495.2:c.1046C>T XP_005273552.1:p.Thr349Met
XM_005273496.2:c.1046C>T XP_005273553.1:p.Thr349Met
XM_005273496.4:c.1046C>T XP_005273553.1:p.Thr349Met
XM_005273498.2:c.1046C>T XP_005273555.1:p.Thr349Met
XM_005273498.4:c.1046C>T XP_005273555.1:p.Thr349Met
XM_011544517.1:c.1676C>T XP_011542819.1:p.Thr559Met
XM_011544517.2:c.1676C>T XP_011542819.1:p.Thr559Met
XM_011544518.1:c.1526C>T XP_011542820.1:p.Thr509Met
XM_011544518.2:c.1526C>T XP_011542820.1:p.Thr509Met
XM_011544519.1:c.1499C>T XP_011542821.1:p.Thr500Met
XM_011544519.2:c.1499C>T XP_011542821.1:p.Thr500Met
XM_011544520.1:c.1421C>T XP_011542822.1:p.Thr474Met
XM_011544520.2:c.1421C>T XP_011542822.1:p.Thr474Met
XM_011544521.1:c.1046C>T XP_011542823.1:p.Thr349Met
XM_011544521.2:c.1046C>T XP_011542823.1:p.Thr349Met
XM_011544522.1:c.839C>T XP_011542824.1:p.Thr280Met
XM_011544522.2:c.839C>T XP_011542824.1:p.Thr280Met
XM_017013396.1:c.839C>T XP_016868885.1:p.Thr280Met
XR_001745530.2:n.1798C>T
XR_949402.1:n.1700C>T
XR_949402.3:n.2280C>T