Canonical Allele Identifier: CA382826925
Community Standard Title: NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118506606A>G , CM000673.2:g.118506606A>G GRCh38
NC_000011.9:g.118377321A>G , CM000673.1:g.118377321A>G GRCh37
NC_000011.8:g.117882531A>G NCBI36
NG_027813.1:g.75117A>G , LRG_613:g.75117A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.10714A>G MANE Select NP_001184033.1:p.Ile3572Val
ENST00000534358.8:c.10714A>G MANE Select ENSP00000436786.2:p.Ile3572Val
NM_001197104.1:c.10714A>G , LRG_613t1:c.10714A>G NP_001184033.1:p.Ile3572Val
NM_005933.3:c.10705A>G NP_005924.2:p.Ile3569Val
NM_005933.4:c.10705A>G NP_005924.2:p.Ile3569Val
ENST00000389506.10:c.10705A>G ENSP00000374157.5:p.Ile3569Val
ENST00000389506.9:c.10705A>G ENSP00000374157.5:p.Ile3569Val
ENST00000531904.7:c.10813A>G ENSP00000432391.3:p.Ile3605Val
ENST00000534085.1:n.46A>G
ENST00000534085.2:n.993A>G
ENST00000534358.5:c.10714A>G ENSP00000436786.1:p.Ile3572Val
ENST00000647944.1:c.343A>G ENSP00000498134.1:p.Ile115Val
ENST00000649699.1:c.10591A>G ENSP00000496927.1:p.Ile3531Val
ENST00000649878.1:c.61A>G ENSP00000497891.1:p.Ile21Val
ENST00000649878.2:c.4753A>G ENSP00000497891.2:p.Ile1585Val
ENST00000685397.1:c.4753A>G ENSP00000509586.1:p.Ile1585Val
ENST00000686370.1:c.4753A>G ENSP00000509179.1:p.Ile1585Val
ENST00000689424.1:c.5011A>G ENSP00000509852.1:p.Ile1671Val
ENST00000691053.1:c.10786A>G ENSP00000509168.1:p.Ile3596Val
ENST00000710560.1:c.10804A>G ENSP00000518343.1:p.Ile3602Val
XM_006718839.2:c.8197A>G XP_006718902.2:p.Ile2733Val
XM_006718839.3:c.8197A>G XP_006718902.2:p.Ile2733Val
XM_011542829.1:c.10813A>G XP_011541131.1:p.Ile3605Val
XM_011542829.2:c.10813A>G XP_011541131.1:p.Ile3605Val
XM_011542830.1:c.10810A>G XP_011541132.1:p.Ile3604Val
XM_011542830.2:c.10810A>G XP_011541132.1:p.Ile3604Val
XM_011542831.1:c.10804A>G XP_011541133.1:p.Ile3602Val
XM_011542831.2:c.10804A>G XP_011541133.1:p.Ile3602Val
XM_011542832.1:c.8620A>G XP_011541134.1:p.Ile2874Val
XM_011542833.1:c.8296A>G XP_011541135.1:p.Ile2766Val
XM_011542833.2:c.8296A>G XP_011541135.1:p.Ile2766Val