Canonical Allele Identifier: CA382830524
Community Standard Title: NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118511989C>T , CM000673.2:g.118511989C>T GRCh38
NC_000011.9:g.118382704C>T , CM000673.1:g.118382704C>T GRCh37
NC_000011.8:g.117887914C>T NCBI36
NG_027813.1:g.80500C>T , LRG_613:g.80500C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11110C>T (KMT2A) MANE Select NP_001184033.1:p.Arg3704Ter
ENST00000534358.8:c.11110C>T (KMT2A) MANE Select ENSP00000436786.2:p.Arg3704Ter
NM_001197104.1:c.11110C>T , LRG_613t1:c.11110C>T (KMT2A) NP_001184033.1:p.Arg3704Ter
NM_005933.3:c.11101C>T (KMT2A) NP_005924.2:p.Arg3701Ter
NM_005933.4:c.11101C>T (KMT2A) NP_005924.2:p.Arg3701Ter
NR_120574.1:n.433G>A (TTC36-AS1)
ENST00000389506.10:c.11101C>T (KMT2A) ENSP00000374157.5:p.Arg3701Ter
ENST00000389506.9:c.11101C>T (KMT2A) ENSP00000374157.5:p.Arg3701Ter
ENST00000527839.2:n.610C>T (KMT2A)
ENST00000531904.7:c.11209C>T (KMT2A) ENSP00000432391.3:p.Arg3737Ter
ENST00000534358.5:c.11110C>T (KMT2A) ENSP00000436786.1:p.Arg3704Ter
ENST00000534678.2:n.212C>T (KMT2A)
ENST00000534678.3:n.568C>T (KMT2A)
ENST00000648565.1:n.346C>T (KMT2A)
ENST00000649699.1:c.10987C>T (KMT2A) ENSP00000496927.1:p.Arg3663Ter
ENST00000649878.1:c.434C>T (KMT2A) ENSP00000497891.1:n.434C>T
ENST00000649878.2:c.5126C>T (KMT2A) ENSP00000497891.2:n.5126C>T
ENST00000685397.1:c.5068C>T (KMT2A) ENSP00000509586.1:p.Arg1690Ter
ENST00000686370.1:c.5170C>T (KMT2A) ENSP00000509179.1:p.Arg1724Ter
ENST00000686588.1:c.210C>T (KMT2A)
ENST00000691053.1:c.11182C>T (KMT2A) ENSP00000509168.1:p.Arg3728Ter
ENST00000710560.1:c.11200C>T (KMT2A) ENSP00000518343.1:p.Arg3734Ter
XM_006718839.2:c.8593C>T (KMT2A) XP_006718902.2:p.Arg2865Ter
XM_006718839.3:c.8593C>T (KMT2A) XP_006718902.2:p.Arg2865Ter
XM_011542829.1:c.11209C>T (KMT2A) XP_011541131.1:p.Arg3737Ter
XM_011542829.2:c.11209C>T (KMT2A) XP_011541131.1:p.Arg3737Ter
XM_011542830.1:c.11206C>T (KMT2A) XP_011541132.1:p.Arg3736Ter
XM_011542830.2:c.11206C>T (KMT2A) XP_011541132.1:p.Arg3736Ter
XM_011542831.1:c.11200C>T (KMT2A) XP_011541133.1:p.Arg3734Ter
XM_011542831.2:c.11200C>T (KMT2A) XP_011541133.1:p.Arg3734Ter
XM_011542832.1:c.9016C>T (KMT2A) XP_011541134.1:p.Arg3006Ter
XM_011542833.1:c.8692C>T (KMT2A) XP_011541135.1:p.Arg2898Ter
XM_011542833.2:c.8692C>T (KMT2A) XP_011541135.1:p.Arg2898Ter