Canonical Allele Identifier: CA5375411

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834476G>A , CM000671.2:g.137834476G>A	GRCh38
NC_000009.11:g.140728928G>A , CM000671.1:g.140728928G>A	GRCh37
NC_000009.10:g.139848749G>A	NCBI36
NG_011776.1:g.220485G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3668G>A MANE Select	NP_079033.4:p.Arg1223Gln
ENST00000460843.6:c.3668G>A MANE Select	ENSP00000417980.1:p.Arg1223Gln
NM_001354263.1:c.3647G>A	NP_001341192.1:p.Arg1216Gln
NM_001354263.2:c.3647G>A	NP_001341192.1:p.Arg1216Gln
NM_024757.4:c.3668G>A	NP_079033.4:p.Arg1223Gln
ENST00000460843.5:c.3668G>A	ENSP00000417980.1:p.Arg1223Gln
ENST00000462942.3:c.2398-12084G>A	ENSP00000436107.1:n.2398-12084G>A
ENST00000472849.1:n.440G>A
ENST00000475564.5:n.1392G>A
ENST00000475704.2:n.398G>A
ENST00000494249.5:n.1021G>A
ENST00000637161.1:c.3575G>A	ENSP00000490328.1:p.Arg1192Gln
ENST00000637748.1:n.649G>A
ENST00000637891.1:c.1742G>A	ENSP00000490907.1:n.1742G>A
XM_005266105.3:c.3659G>A	XP_005266162.1:p.Arg1220Gln
XM_005266105.5:c.3659G>A	XP_005266162.1:p.Arg1220Gln
XM_005266110.1:c.3575G>A	XP_005266167.1:p.Arg1192Gln
XM_006717288.2:c.3650G>A	XP_006717351.1:p.Arg1217Gln
XM_011519021.1:c.3677G>A	XP_011517323.1:p.Arg1226Gln
XM_011519021.3:c.3677G>A	XP_011517323.1:p.Arg1226Gln
XM_011519022.1:c.3674G>A	XP_011517324.1:p.Arg1225Gln
XM_011519022.3:c.3674G>A	XP_011517324.1:p.Arg1225Gln
XM_011519023.1:c.3656G>A	XP_011517325.1:p.Arg1219Gln
XM_011519023.3:c.3656G>A	XP_011517325.1:p.Arg1219Gln
XM_011519024.1:c.3599G>A	XP_011517326.1:p.Arg1200Gln
XM_011519025.1:c.3575G>A	XP_011517327.1:p.Arg1192Gln
XM_011519026.1:c.3533G>A	XP_011517328.1:p.Arg1178Gln
XM_011519029.1:c.2099G>A	XP_011517331.1:p.Arg700Gln
XM_011519029.3:c.2099G>A	XP_011517331.1:p.Arg700Gln
XM_011519030.1:c.1451G>A	XP_011517332.1:p.Arg484Gln
XM_011519030.3:c.1451G>A	XP_011517332.1:p.Arg484Gln
XM_011519031.1:c.1238G>A	XP_011517333.1:p.Arg413Gln
XM_011519032.1:c.1238G>A	XP_011517334.1:p.Arg413Gln
XM_011519033.1:c.3512G>A	XP_011517335.1:p.Arg1171Gln
XM_017015134.1:c.3653G>A	XP_016870623.1:p.Arg1218Gln
XM_017015136.2:c.3569G>A	XP_016870625.1:p.Arg1190Gln
XM_017015137.1:c.3554G>A	XP_016870626.1:p.Arg1185Gln
XM_017015138.1:c.3554G>A	XP_016870627.1:p.Arg1185Gln
XM_024447674.1:c.3497G>A	XP_024303442.1:p.Arg1166Gln
XM_024447675.1:c.3431G>A	XP_024303443.1:p.Arg1144Gln
XM_024447676.1:c.2792G>A	XP_024303444.1:p.Arg931Gln
XM_024447677.1:c.2792G>A	XP_024303445.1:p.Arg931Gln
XM_024447680.1:c.3410G>A	XP_024303448.1:p.Arg1137Gln