Canonical Allele Identifier: CA382833012
Community Standard Title: NM_001197104.2(KMT2A):c.11272G>C (p.Glu3758Gln)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118519743G>C , CM000673.2:g.118519743G>C GRCh38
NC_000011.9:g.118390458G>C , CM000673.1:g.118390458G>C GRCh37
NC_000011.8:g.117895668G>C NCBI36
NG_027813.1:g.88254G>C , LRG_613:g.88254G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11272G>C (KMT2A) MANE Select NP_001184033.1:p.Glu3758Gln
ENST00000534358.8:c.11272G>C (KMT2A) MANE Select ENSP00000436786.2:p.Glu3758Gln
NM_001197104.1:c.11272G>C , LRG_613t1:c.11272G>C (KMT2A) NP_001184033.1:p.Glu3758Gln
NM_005933.3:c.11263G>C (KMT2A) NP_005924.2:p.Glu3755Gln
NM_005933.4:c.11263G>C (KMT2A) NP_005924.2:p.Glu3755Gln
NR_120572.1:n.429-47C>G (TTC36-AS1)
NR_120573.1:n.322-47C>G (TTC36-AS1)
NR_120574.1:n.321+1523C>G (TTC36-AS1)
NR_120575.1:n.342-47C>G (TTC36-AS1)
NR_120576.1:n.154-47C>G (TTC36-AS1)
ENST00000389506.10:c.11263G>C (KMT2A) ENSP00000374157.5:p.Glu3755Gln
ENST00000389506.9:c.11263G>C (KMT2A) ENSP00000374157.5:p.Glu3755Gln
ENST00000525408.1:n.185G>C (KMT2A)
ENST00000525408.2:n.187G>C (KMT2A)
ENST00000527839.2:n.772G>C (KMT2A)
ENST00000531904.7:c.11371G>C (KMT2A) ENSP00000432391.3:p.Glu3791Gln
ENST00000534358.5:c.11272G>C (KMT2A) ENSP00000436786.1:p.Glu3758Gln
ENST00000648565.1:n.508G>C (KMT2A)
ENST00000649699.1:c.11149G>C (KMT2A) ENSP00000496927.1:p.Glu3717Gln
ENST00000685397.1:c.5230G>C (KMT2A) ENSP00000509586.1:p.Glu1744Gln
ENST00000686370.1:c.5332G>C (KMT2A) ENSP00000509179.1:p.Glu1778Gln
ENST00000686588.1:c.372G>C (KMT2A)
ENST00000691053.1:c.11344G>C (KMT2A) ENSP00000509168.1:p.Glu3782Gln
ENST00000710560.1:c.11362G>C (KMT2A) ENSP00000518343.1:p.Glu3788Gln
XM_006718839.2:c.8755G>C (KMT2A) XP_006718902.2:p.Glu2919Gln
XM_006718839.3:c.8755G>C (KMT2A) XP_006718902.2:p.Glu2919Gln
XM_011542829.1:c.11371G>C (KMT2A) XP_011541131.1:p.Glu3791Gln
XM_011542829.2:c.11371G>C (KMT2A) XP_011541131.1:p.Glu3791Gln
XM_011542830.1:c.11368G>C (KMT2A) XP_011541132.1:p.Glu3790Gln
XM_011542830.2:c.11368G>C (KMT2A) XP_011541132.1:p.Glu3790Gln
XM_011542831.1:c.11362G>C (KMT2A) XP_011541133.1:p.Glu3788Gln
XM_011542831.2:c.11362G>C (KMT2A) XP_011541133.1:p.Glu3788Gln
XM_011542832.1:c.9178G>C (KMT2A) XP_011541134.1:p.Glu3060Gln
XM_011542833.1:c.8854G>C (KMT2A) XP_011541135.1:p.Glu2952Gln
XM_011542833.2:c.8854G>C (KMT2A) XP_011541135.1:p.Glu2952Gln