Canonical Allele Identifier: CA382824785
Community Standard Title: NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118478095T>C , CM000673.2:g.118478095T>C GRCh38
NC_000011.9:g.118348810T>C , CM000673.1:g.118348810T>C GRCh37
NC_000011.8:g.117854020T>C NCBI36
NG_027813.1:g.46606T>C , LRG_613:g.46606T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.3463T>C MANE Select NP_001184033.1:p.Cys1155Arg
ENST00000534358.8:c.3463T>C MANE Select ENSP00000436786.2:p.Cys1155Arg
NM_001197104.1:c.3463T>C , LRG_613t1:c.3463T>C NP_001184033.1:p.Cys1155Arg
NM_005933.3:c.3463T>C NP_005924.2:p.Cys1155Arg
NM_005933.4:c.3463T>C NP_005924.2:p.Cys1155Arg
ENST00000389506.10:c.3463T>C ENSP00000374157.5:p.Cys1155Arg
ENST00000389506.9:c.3463T>C ENSP00000374157.5:p.Cys1155Arg
ENST00000527869.7:c.1045T>C ENSP00000432652.3:p.Cys349Arg
ENST00000531904.6:c.3562T>C ENSP00000432391.2:p.Cys1188Arg
ENST00000531904.7:c.3562T>C ENSP00000432391.3:p.Cys1188Arg
ENST00000533790.1:c.697T>C ENSP00000436700.1:p.Cys233Arg
ENST00000533790.2:c.715T>C ENSP00000436700.2:p.Cys239Arg
ENST00000533790.3:c.946T>C ENSP00000436700.3:p.Cys316Arg
ENST00000534358.5:c.3463T>C ENSP00000436786.1:p.Cys1155Arg
ENST00000648261.1:c.2233T>C ENSP00000498126.1:p.Cys745Arg
ENST00000649690.2:c.1270T>C ENSP00000497372.2:p.Cys424Arg
ENST00000649699.1:c.3463T>C ENSP00000496927.1:p.Cys1155Arg
ENST00000685719.1:c.444T>C
ENST00000691053.1:c.3463T>C ENSP00000509168.1:p.Cys1155Arg
ENST00000710560.1:c.3562T>C ENSP00000518343.1:p.Cys1188Arg
XM_006718839.2:c.946T>C XP_006718902.2:p.Cys316Arg
XM_006718839.3:c.946T>C XP_006718902.2:p.Cys316Arg
XM_011542829.1:c.3562T>C XP_011541131.1:p.Cys1188Arg
XM_011542829.2:c.3562T>C XP_011541131.1:p.Cys1188Arg
XM_011542830.1:c.3562T>C XP_011541132.1:p.Cys1188Arg
XM_011542830.2:c.3562T>C XP_011541132.1:p.Cys1188Arg
XM_011542831.1:c.3562T>C XP_011541133.1:p.Cys1188Arg
XM_011542831.2:c.3562T>C XP_011541133.1:p.Cys1188Arg
XM_011542832.1:c.1369T>C XP_011541134.1:p.Cys457Arg
XM_011542833.1:c.1045T>C XP_011541135.1:p.Cys349Arg
XM_011542833.2:c.1045T>C XP_011541135.1:p.Cys349Arg