Canonical Allele Identifier: CA382830607
Community Standard Title: NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118512002G>C , CM000673.2:g.118512002G>C GRCh38
NC_000011.9:g.118382717G>C , CM000673.1:g.118382717G>C GRCh37
NC_000011.8:g.117887927G>C NCBI36
NG_027813.1:g.80513G>C , LRG_613:g.80513G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11123G>C (KMT2A) MANE Select NP_001184033.1:p.Arg3708Pro
ENST00000534358.8:c.11123G>C (KMT2A) MANE Select ENSP00000436786.2:p.Arg3708Pro
NM_001197104.1:c.11123G>C , LRG_613t1:c.11123G>C (KMT2A) NP_001184033.1:p.Arg3708Pro
NM_005933.3:c.11114G>C (KMT2A) NP_005924.2:p.Arg3705Pro
NM_005933.4:c.11114G>C (KMT2A) NP_005924.2:p.Arg3705Pro
NR_120574.1:n.420C>G (TTC36-AS1)
ENST00000389506.10:c.11114G>C (KMT2A) ENSP00000374157.5:p.Arg3705Pro
ENST00000389506.9:c.11114G>C (KMT2A) ENSP00000374157.5:p.Arg3705Pro
ENST00000527839.2:n.623G>C (KMT2A)
ENST00000531904.7:c.11222G>C (KMT2A) ENSP00000432391.3:p.Arg3741Pro
ENST00000534358.5:c.11123G>C (KMT2A) ENSP00000436786.1:p.Arg3708Pro
ENST00000534678.2:n.225G>C (KMT2A)
ENST00000534678.3:n.581G>C (KMT2A)
ENST00000648565.1:n.359G>C (KMT2A)
ENST00000649699.1:c.11000G>C (KMT2A) ENSP00000496927.1:p.Arg3667Pro
ENST00000649878.1:c.447G>C (KMT2A) ENSP00000497891.1:n.447G>C
ENST00000649878.2:c.5139G>C (KMT2A) ENSP00000497891.2:n.5139G>C
ENST00000685397.1:c.5081G>C (KMT2A) ENSP00000509586.1:p.Arg1694Pro
ENST00000686370.1:c.5183G>C (KMT2A) ENSP00000509179.1:p.Arg1728Pro
ENST00000686588.1:c.223G>C (KMT2A)
ENST00000691053.1:c.11195G>C (KMT2A) ENSP00000509168.1:p.Arg3732Pro
ENST00000710560.1:c.11213G>C (KMT2A) ENSP00000518343.1:p.Arg3738Pro
XM_006718839.2:c.8606G>C (KMT2A) XP_006718902.2:p.Arg2869Pro
XM_006718839.3:c.8606G>C (KMT2A) XP_006718902.2:p.Arg2869Pro
XM_011542829.1:c.11222G>C (KMT2A) XP_011541131.1:p.Arg3741Pro
XM_011542829.2:c.11222G>C (KMT2A) XP_011541131.1:p.Arg3741Pro
XM_011542830.1:c.11219G>C (KMT2A) XP_011541132.1:p.Arg3740Pro
XM_011542830.2:c.11219G>C (KMT2A) XP_011541132.1:p.Arg3740Pro
XM_011542831.1:c.11213G>C (KMT2A) XP_011541133.1:p.Arg3738Pro
XM_011542831.2:c.11213G>C (KMT2A) XP_011541133.1:p.Arg3738Pro
XM_011542832.1:c.9029G>C (KMT2A) XP_011541134.1:p.Arg3010Pro
XM_011542833.1:c.8705G>C (KMT2A) XP_011541135.1:p.Arg2902Pro
XM_011542833.2:c.8705G>C (KMT2A) XP_011541135.1:p.Arg2902Pro