Canonical Allele Identifier: CA5375409

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834467G>A , CM000671.2:g.137834467G>A	GRCh38
NC_000009.11:g.140728919G>A , CM000671.1:g.140728919G>A	GRCh37
NC_000009.10:g.139848740G>A	NCBI36
NG_011776.1:g.220476G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3659G>A MANE Select	NP_079033.4:p.Arg1220Gln
ENST00000460843.6:c.3659G>A MANE Select	ENSP00000417980.1:p.Arg1220Gln
NM_001354263.1:c.3638G>A	NP_001341192.1:p.Arg1213Gln
NM_001354263.2:c.3638G>A	NP_001341192.1:p.Arg1213Gln
NM_024757.4:c.3659G>A	NP_079033.4:p.Arg1220Gln
ENST00000460843.5:c.3659G>A	ENSP00000417980.1:p.Arg1220Gln
ENST00000462942.3:c.2398-12093G>A	ENSP00000436107.1:n.2398-12093G>A
ENST00000472849.1:n.431G>A
ENST00000475564.5:n.1383G>A
ENST00000475704.2:n.389G>A
ENST00000494249.5:n.1012G>A
ENST00000637161.1:c.3566G>A	ENSP00000490328.1:p.Arg1189Gln
ENST00000637748.1:n.640G>A
ENST00000637891.1:c.1733G>A	ENSP00000490907.1:n.1733G>A
XM_005266105.3:c.3650G>A	XP_005266162.1:p.Arg1217Gln
XM_005266105.5:c.3650G>A	XP_005266162.1:p.Arg1217Gln
XM_005266110.1:c.3566G>A	XP_005266167.1:p.Arg1189Gln
XM_006717288.2:c.3641G>A	XP_006717351.1:p.Arg1214Gln
XM_011519021.1:c.3668G>A	XP_011517323.1:p.Arg1223Gln
XM_011519021.3:c.3668G>A	XP_011517323.1:p.Arg1223Gln
XM_011519022.1:c.3665G>A	XP_011517324.1:p.Arg1222Gln
XM_011519022.3:c.3665G>A	XP_011517324.1:p.Arg1222Gln
XM_011519023.1:c.3647G>A	XP_011517325.1:p.Arg1216Gln
XM_011519023.3:c.3647G>A	XP_011517325.1:p.Arg1216Gln
XM_011519024.1:c.3590G>A	XP_011517326.1:p.Arg1197Gln
XM_011519025.1:c.3566G>A	XP_011517327.1:p.Arg1189Gln
XM_011519026.1:c.3524G>A	XP_011517328.1:p.Arg1175Gln
XM_011519029.1:c.2090G>A	XP_011517331.1:p.Arg697Gln
XM_011519029.3:c.2090G>A	XP_011517331.1:p.Arg697Gln
XM_011519030.1:c.1442G>A	XP_011517332.1:p.Arg481Gln
XM_011519030.3:c.1442G>A	XP_011517332.1:p.Arg481Gln
XM_011519031.1:c.1229G>A	XP_011517333.1:p.Arg410Gln
XM_011519032.1:c.1229G>A	XP_011517334.1:p.Arg410Gln
XM_011519033.1:c.3503G>A	XP_011517335.1:p.Arg1168Gln
XM_017015134.1:c.3644G>A	XP_016870623.1:p.Arg1215Gln
XM_017015136.2:c.3560G>A	XP_016870625.1:p.Arg1187Gln
XM_017015137.1:c.3545G>A	XP_016870626.1:p.Arg1182Gln
XM_017015138.1:c.3545G>A	XP_016870627.1:p.Arg1182Gln
XM_024447674.1:c.3488G>A	XP_024303442.1:p.Arg1163Gln
XM_024447675.1:c.3422G>A	XP_024303443.1:p.Arg1141Gln
XM_024447676.1:c.2783G>A	XP_024303444.1:p.Arg928Gln
XM_024447677.1:c.2783G>A	XP_024303445.1:p.Arg928Gln
XM_024447680.1:c.3401G>A	XP_024303448.1:p.Arg1134Gln