Canonical Allele Identifier: CA382819997

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118474269T>C , CM000673.2:g.118474269T>C	GRCh38
NC_000011.9:g.118344984T>C , CM000673.1:g.118344984T>C	GRCh37
NC_000011.8:g.117850194T>C	NCBI36
NG_027813.1:g.42780T>C , LRG_613:g.42780T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.3110T>C MANE Select	NP_001184033.1:p.Ile1037Thr
ENST00000534358.8:c.3110T>C MANE Select	ENSP00000436786.2:p.Ile1037Thr
NM_001197104.1:c.3110T>C , LRG_613t1:c.3110T>C	NP_001184033.1:p.Ile1037Thr
NM_005933.3:c.3110T>C	NP_005924.2:p.Ile1037Thr
NM_005933.4:c.3110T>C	NP_005924.2:p.Ile1037Thr
ENST00000389506.10:c.3110T>C	ENSP00000374157.5:p.Ile1037Thr
ENST00000389506.9:c.3110T>C	ENSP00000374157.5:p.Ile1037Thr
ENST00000527869.6:c.443T>C	ENSP00000432652.2:p.Ile148Thr
ENST00000527869.7:c.692T>C	ENSP00000432652.3:p.Ile231Thr
ENST00000531904.6:c.3209T>C	ENSP00000432391.2:p.Ile1070Thr
ENST00000531904.7:c.3209T>C	ENSP00000432391.3:p.Ile1070Thr
ENST00000533790.1:c.344T>C	ENSP00000436700.1:p.Ile115Thr
ENST00000533790.2:c.362T>C	ENSP00000436700.2:p.Ile121Thr
ENST00000533790.3:c.593T>C	ENSP00000436700.3:p.Ile198Thr
ENST00000534358.5:c.3110T>C	ENSP00000436786.1:p.Ile1037Thr
ENST00000648261.1:c.1880T>C	ENSP00000498126.1:p.Ile627Thr
ENST00000649690.1:c.503T>C	ENSP00000497372.1:p.Ile168Thr
ENST00000649690.2:c.917T>C	ENSP00000497372.2:p.Ile306Thr
ENST00000649699.1:c.3110T>C	ENSP00000496927.1:p.Ile1037Thr
ENST00000685719.1:c.91T>C
ENST00000691053.1:c.3110T>C	ENSP00000509168.1:p.Ile1037Thr
ENST00000710560.1:c.3209T>C	ENSP00000518343.1:p.Ile1070Thr
XM_006718839.2:c.593T>C	XP_006718902.2:p.Ile198Thr
XM_006718839.3:c.593T>C	XP_006718902.2:p.Ile198Thr
XM_011542829.1:c.3209T>C	XP_011541131.1:p.Ile1070Thr
XM_011542829.2:c.3209T>C	XP_011541131.1:p.Ile1070Thr
XM_011542830.1:c.3209T>C	XP_011541132.1:p.Ile1070Thr
XM_011542830.2:c.3209T>C	XP_011541132.1:p.Ile1070Thr
XM_011542831.1:c.3209T>C	XP_011541133.1:p.Ile1070Thr
XM_011542831.2:c.3209T>C	XP_011541133.1:p.Ile1070Thr
XM_011542832.1:c.1016T>C	XP_011541134.1:p.Ile339Thr
XM_011542833.1:c.692T>C	XP_011541135.1:p.Ile231Thr
XM_011542833.2:c.692T>C	XP_011541135.1:p.Ile231Thr