Canonical Allele Identifier: CA201814712

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834909G>C , CM000671.2:g.137834909G>C	GRCh38
NC_000009.11:g.140729361G>C , CM000671.1:g.140729361G>C	GRCh37
NC_000009.10:g.139849182G>C	NCBI36
NG_011776.1:g.220918G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3853G>C MANE Select	NP_079033.4:p.Gly1285Arg
ENST00000460843.6:c.3853G>C MANE Select	ENSP00000417980.1:p.Gly1285Arg
NM_001354263.1:c.3832G>C	NP_001341192.1:p.Gly1278Arg
NM_001354263.2:c.3832G>C	NP_001341192.1:p.Gly1278Arg
NM_024757.4:c.3853G>C	NP_079033.4:p.Gly1285Arg
ENST00000460843.5:c.3853G>C	ENSP00000417980.1:p.Gly1285Arg
ENST00000462942.3:c.2398-11651G>C	ENSP00000436107.1:n.2398-11651G>C
ENST00000472849.1:n.625G>C
ENST00000475564.5:n.1577G>C
ENST00000475704.2:n.583G>C
ENST00000494249.5:n.1206G>C
ENST00000637161.1:c.3760G>C	ENSP00000490328.1:p.Gly1254Arg
ENST00000637748.1:n.834G>C
ENST00000637891.1:c.1927G>C	ENSP00000490907.1:n.1927G>C
XM_005266105.3:c.3844G>C	XP_005266162.1:p.Gly1282Arg
XM_005266105.5:c.3844G>C	XP_005266162.1:p.Gly1282Arg
XM_005266110.1:c.3760G>C	XP_005266167.1:p.Gly1254Arg
XM_006717288.2:c.3835G>C	XP_006717351.1:p.Gly1279Arg
XM_011519021.1:c.3862G>C	XP_011517323.1:p.Gly1288Arg
XM_011519021.3:c.3862G>C	XP_011517323.1:p.Gly1288Arg
XM_011519022.1:c.3859G>C	XP_011517324.1:p.Gly1287Arg
XM_011519022.3:c.3859G>C	XP_011517324.1:p.Gly1287Arg
XM_011519023.1:c.3841G>C	XP_011517325.1:p.Gly1281Arg
XM_011519023.3:c.3841G>C	XP_011517325.1:p.Gly1281Arg
XM_011519024.1:c.3784G>C	XP_011517326.1:p.Gly1262Arg
XM_011519025.1:c.3760G>C	XP_011517327.1:p.Gly1254Arg
XM_011519026.1:c.3718G>C	XP_011517328.1:p.Gly1240Arg
XM_011519029.1:c.2284G>C	XP_011517331.1:p.Gly762Arg
XM_011519029.3:c.2284G>C	XP_011517331.1:p.Gly762Arg
XM_011519030.1:c.1636G>C	XP_011517332.1:p.Gly546Arg
XM_011519030.3:c.1636G>C	XP_011517332.1:p.Gly546Arg
XM_011519031.1:c.1423G>C	XP_011517333.1:p.Gly475Arg
XM_011519032.1:c.1423G>C	XP_011517334.1:p.Gly475Arg
XM_011519033.1:c.3697G>C	XP_011517335.1:p.Gly1233Arg
XM_017015134.1:c.3838G>C	XP_016870623.1:p.Gly1280Arg
XM_017015136.2:c.3754G>C	XP_016870625.1:p.Gly1252Arg
XM_017015137.1:c.3739G>C	XP_016870626.1:p.Gly1247Arg
XM_017015138.1:c.3739G>C	XP_016870627.1:p.Gly1247Arg
XM_024447674.1:c.3682G>C	XP_024303442.1:p.Gly1228Arg
XM_024447675.1:c.3616G>C	XP_024303443.1:p.Gly1206Arg
XM_024447676.1:c.2977G>C	XP_024303444.1:p.Gly993Arg
XM_024447677.1:c.2977G>C	XP_024303445.1:p.Gly993Arg
XM_024447680.1:c.3595G>C	XP_024303448.1:p.Gly1199Arg