Canonical Allele Identifier: CA382824734
Community Standard Title: NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118478083C>T , CM000673.2:g.118478083C>T GRCh38
NC_000011.9:g.118348798C>T , CM000673.1:g.118348798C>T GRCh37
NC_000011.8:g.117854008C>T NCBI36
NG_027813.1:g.46594C>T , LRG_613:g.46594C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.3451C>T MANE Select NP_001184033.1:p.Arg1151Ter
ENST00000534358.8:c.3451C>T MANE Select ENSP00000436786.2:p.Arg1151Ter
NM_001197104.1:c.3451C>T , LRG_613t1:c.3451C>T NP_001184033.1:p.Arg1151Ter
NM_005933.3:c.3451C>T NP_005924.2:p.Arg1151Ter
NM_005933.4:c.3451C>T NP_005924.2:p.Arg1151Ter
ENST00000389506.10:c.3451C>T ENSP00000374157.5:p.Arg1151Ter
ENST00000389506.9:c.3451C>T ENSP00000374157.5:p.Arg1151Ter
ENST00000527869.7:c.1033C>T ENSP00000432652.3:p.Arg345Ter
ENST00000531904.6:c.3550C>T ENSP00000432391.2:p.Arg1184Ter
ENST00000531904.7:c.3550C>T ENSP00000432391.3:p.Arg1184Ter
ENST00000533790.1:c.685C>T ENSP00000436700.1:p.Arg229Ter
ENST00000533790.2:c.703C>T ENSP00000436700.2:p.Arg235Ter
ENST00000533790.3:c.934C>T ENSP00000436700.3:p.Arg312Ter
ENST00000534358.5:c.3451C>T ENSP00000436786.1:p.Arg1151Ter
ENST00000648261.1:c.2221C>T ENSP00000498126.1:p.Arg741Ter
ENST00000649690.2:c.1258C>T ENSP00000497372.2:p.Arg420Ter
ENST00000649699.1:c.3451C>T ENSP00000496927.1:p.Arg1151Ter
ENST00000685719.1:c.432C>T
ENST00000691053.1:c.3451C>T ENSP00000509168.1:p.Arg1151Ter
ENST00000710560.1:c.3550C>T ENSP00000518343.1:p.Arg1184Ter
XM_006718839.2:c.934C>T XP_006718902.2:p.Arg312Ter
XM_006718839.3:c.934C>T XP_006718902.2:p.Arg312Ter
XM_011542829.1:c.3550C>T XP_011541131.1:p.Arg1184Ter
XM_011542829.2:c.3550C>T XP_011541131.1:p.Arg1184Ter
XM_011542830.1:c.3550C>T XP_011541132.1:p.Arg1184Ter
XM_011542830.2:c.3550C>T XP_011541132.1:p.Arg1184Ter
XM_011542831.1:c.3550C>T XP_011541133.1:p.Arg1184Ter
XM_011542831.2:c.3550C>T XP_011541133.1:p.Arg1184Ter
XM_011542832.1:c.1357C>T XP_011541134.1:p.Arg453Ter
XM_011542833.1:c.1033C>T XP_011541135.1:p.Arg345Ter
XM_011542833.2:c.1033C>T XP_011541135.1:p.Arg345Ter