Canonical Allele Identifier: CA4261527
Community Standard Title: NM_006060.6(IKZF1):c.1486G>A (p.Gly496Ser)
Gene: IKZF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50400553G>A , CM000669.2:g.50400553G>A GRCh38
NC_000007.13:g.50468251G>A , CM000669.1:g.50468251G>A GRCh37
NC_000007.12:g.50435745G>A NCBI36
NG_034231.1:g.101471G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006060.6:c.1486G>A MANE Select NP_006051.1:p.Gly496Ser
ENST00000331340.8:c.1486G>A MANE Select ENSP00000331614.3:p.Gly496Ser
NM_001220765.2:c.1360G>A NP_001207694.1:p.Gly454Ser
NM_001220765.3:c.1360G>A NP_001207694.1:p.Gly454Ser
NM_001220767.2:c.1195G>A NP_001207696.1:p.Gly399Ser
NM_001220768.2:c.1225G>A NP_001207697.1:p.Gly409Ser
NM_001220770.2:c.1069G>A NP_001207699.1:p.Gly357Ser
NM_001220771.2:c.1057G>A NP_001207700.1:p.Gly353Ser
NM_001291837.1:c.1360G>A NP_001278766.1:p.Gly454Ser
NM_001291837.2:c.1360G>A NP_001278766.1:p.Gly454Ser
NM_001291838.1:c.1225G>A NP_001278767.1:p.Gly409Ser
NM_001291838.2:c.1225G>A NP_001278767.1:p.Gly409Ser
NM_001291839.1:c.1099G>A NP_001278768.1:p.Gly367Ser
NM_001291839.2:c.1099G>A NP_001278768.1:p.Gly367Ser
NM_001291840.1:c.796G>A NP_001278769.1:p.Gly266Ser
NM_001291841.1:c.1057G>A NP_001278770.1:p.Gly353Ser
NM_001291842.1:c.1027G>A NP_001278771.1:p.Gly343Ser
NM_001291843.1:c.931G>A NP_001278772.1:p.Gly311Ser
NM_001291844.1:c.901G>A NP_001278773.1:p.Gly301Ser
NM_006060.5:c.1486G>A NP_006051.1:p.Gly496Ser
ENST00000331340.7:c.1486G>A ENSP00000331614.3:p.Gly496Ser
ENST00000343574.9:c.1225G>A ENSP00000342750.5:p.Gly409Ser
ENST00000346667.8:c.676G>A ENSP00000340080.5:p.Gly226Ser
ENST00000349824.8:c.1057G>A ENSP00000342485.4:p.Gly353Ser
ENST00000357364.8:c.1225G>A ENSP00000349928.4:p.Gly409Ser
ENST00000359197.9:c.1360G>A ENSP00000352123.5:p.Gly454Ser
ENST00000438033.5:c.1225G>A ENSP00000396554.1:p.Gly409Ser
ENST00000439701.1:c.1360G>A ENSP00000413025.1:p.Gly454Ser
ENST00000439701.2:c.1360G>A ENSP00000413025.1:p.Gly454Ser
ENST00000440768.6:c.811G>A ENSP00000401507.3:p.Gly271Ser
ENST00000471793.1:n.1705G>A
ENST00000612658.4:c.733G>A ENSP00000483016.1:p.Gly245Ser
ENST00000615491.4:c.937G>A ENSP00000478368.1:p.Gly313Ser
ENST00000642219.2:c.1285G>A ENSP00000496655.2:p.Gly429Ser
ENST00000698573.1:c.964G>A ENSP00000513804.1:p.Gly322Ser
ENST00000698574.1:c.1546G>A ENSP00000513805.1:p.Gly516Ser
ENST00000698575.1:c.1057G>A ENSP00000513806.1:p.Gly353Ser
ENST00000698577.1:n.721G>A
XM_011515058.1:c.1618G>A XP_011513360.1:p.Gly540Ser
XM_011515058.2:c.1618G>A XP_011513360.1:p.Gly540Ser
XM_011515059.1:c.1588G>A XP_011513361.1:p.Gly530Ser
XM_011515059.3:c.1588G>A XP_011513361.1:p.Gly530Ser
XM_011515060.1:c.1576G>A XP_011513362.1:p.Gly526Ser
XM_011515060.2:c.1576G>A XP_011513362.1:p.Gly526Ser
XM_011515061.1:c.1558G>A XP_011513363.1:p.Gly520Ser
XM_011515061.3:c.1558G>A XP_011513363.1:p.Gly520Ser
XM_011515062.1:c.1546G>A XP_011513364.1:p.Gly516Ser
XM_011515062.2:c.1546G>A XP_011513364.1:p.Gly516Ser
XM_011515063.1:c.1546G>A XP_011513365.1:p.Gly516Ser
XM_011515063.2:c.1546G>A XP_011513365.1:p.Gly516Ser
XM_011515064.1:c.1546G>A XP_011513366.1:p.Gly516Ser
XM_011515064.3:c.1546G>A XP_011513366.1:p.Gly516Ser
XM_011515065.1:c.1546G>A XP_011513367.1:p.Gly516Ser
XM_011515065.2:c.1546G>A XP_011513367.1:p.Gly516Ser
XM_011515066.1:c.1546G>A XP_011513368.1:p.Gly516Ser
XM_011515066.2:c.1546G>A XP_011513368.1:p.Gly516Ser
XM_011515067.1:c.1492G>A XP_011513369.1:p.Gly498Ser
XM_011515067.3:c.1492G>A XP_011513369.1:p.Gly498Ser
XM_011515068.1:c.1486G>A XP_011513370.1:p.Gly496Ser
XM_011515068.2:c.1486G>A XP_011513370.1:p.Gly496Ser
XM_011515069.1:c.1486G>A XP_011513371.1:p.Gly496Ser
XM_011515069.2:c.1486G>A XP_011513371.1:p.Gly496Ser
XM_011515070.1:c.1432G>A XP_011513372.1:p.Gly478Ser
XM_011515070.2:c.1432G>A XP_011513372.1:p.Gly478Ser
XM_011515071.1:c.1357G>A XP_011513373.1:p.Gly453Ser
XM_011515071.2:c.1357G>A XP_011513373.1:p.Gly453Ser
XM_011515072.1:c.1297G>A XP_011513374.1:p.Gly433Ser
XM_011515072.2:c.1297G>A XP_011513374.1:p.Gly433Ser
XM_011515073.1:c.1285G>A XP_011513375.1:p.Gly429Ser
XM_011515073.2:c.1285G>A XP_011513375.1:p.Gly429Ser
XM_011515074.1:c.1267G>A XP_011513376.1:p.Gly423Ser
XM_011515074.2:c.1267G>A XP_011513376.1:p.Gly423Ser
XM_011515075.1:c.1225G>A XP_011513377.1:p.Gly409Ser
XM_011515075.2:c.1225G>A XP_011513377.1:p.Gly409Ser
XM_011515076.1:c.1225G>A XP_011513378.1:p.Gly409Ser
XM_011515076.2:c.1225G>A XP_011513378.1:p.Gly409Ser
XM_011515077.1:c.1171G>A XP_011513379.1:p.Gly391Ser
XM_011515077.2:c.1171G>A XP_011513379.1:p.Gly391Ser
XM_011515078.1:c.1141G>A XP_011513380.1:p.Gly381Ser
XM_011515078.2:c.1141G>A XP_011513380.1:p.Gly381Ser
XM_017011667.1:c.1285G>A XP_016867156.1:p.Gly429Ser
XM_017011668.1:c.1225G>A XP_016867157.1:p.Gly409Ser