Canonical Allele Identifier: CA375781348

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834386G>A , CM000671.2:g.137834386G>A	GRCh38
NC_000009.11:g.140728838G>A , CM000671.1:g.140728838G>A	GRCh37
NC_000009.10:g.139848659G>A	NCBI36
NG_011776.1:g.220395G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3578G>A MANE Select	NP_079033.4:p.Gly1193Glu
ENST00000460843.6:c.3578G>A MANE Select	ENSP00000417980.1:p.Gly1193Glu
NM_001354263.1:c.3557G>A	NP_001341192.1:p.Gly1186Glu
NM_001354263.2:c.3557G>A	NP_001341192.1:p.Gly1186Glu
NM_024757.4:c.3578G>A	NP_079033.4:p.Gly1193Glu
ENST00000460843.5:c.3578G>A	ENSP00000417980.1:p.Gly1193Glu
ENST00000462942.3:c.2398-12174G>A	ENSP00000436107.1:n.2398-12174G>A
ENST00000472849.1:n.350G>A
ENST00000475564.5:n.1302G>A
ENST00000475704.2:n.308G>A
ENST00000494249.5:n.931G>A
ENST00000637161.1:c.3485G>A	ENSP00000490328.1:p.Gly1162Glu
ENST00000637261.1:c.4152G>A	ENSP00000490815.1:n.4152G>A
ENST00000637748.1:n.559G>A
ENST00000637891.1:c.1652G>A	ENSP00000490907.1:n.1652G>A
XM_005266105.3:c.3569G>A	XP_005266162.1:p.Gly1190Glu
XM_005266105.5:c.3569G>A	XP_005266162.1:p.Gly1190Glu
XM_005266110.1:c.3485G>A	XP_005266167.1:p.Gly1162Glu
XM_006717288.2:c.3560G>A	XP_006717351.1:p.Gly1187Glu
XM_011519021.1:c.3587G>A	XP_011517323.1:p.Gly1196Glu
XM_011519021.3:c.3587G>A	XP_011517323.1:p.Gly1196Glu
XM_011519022.1:c.3584G>A	XP_011517324.1:p.Gly1195Glu
XM_011519022.3:c.3584G>A	XP_011517324.1:p.Gly1195Glu
XM_011519023.1:c.3566G>A	XP_011517325.1:p.Gly1189Glu
XM_011519023.3:c.3566G>A	XP_011517325.1:p.Gly1189Glu
XM_011519024.1:c.3509G>A	XP_011517326.1:p.Gly1170Glu
XM_011519025.1:c.3485G>A	XP_011517327.1:p.Gly1162Glu
XM_011519026.1:c.3443G>A	XP_011517328.1:p.Gly1148Glu
XM_011519029.1:c.2009G>A	XP_011517331.1:p.Gly670Glu
XM_011519029.3:c.2009G>A	XP_011517331.1:p.Gly670Glu
XM_011519030.1:c.1361G>A	XP_011517332.1:p.Gly454Glu
XM_011519030.3:c.1361G>A	XP_011517332.1:p.Gly454Glu
XM_011519031.1:c.1148G>A	XP_011517333.1:p.Gly383Glu
XM_011519032.1:c.1148G>A	XP_011517334.1:p.Gly383Glu
XM_011519033.1:c.3422G>A	XP_011517335.1:p.Gly1141Glu
XM_017015134.1:c.3563G>A	XP_016870623.1:p.Gly1188Glu
XM_017015136.2:c.3479G>A	XP_016870625.1:p.Gly1160Glu
XM_017015137.1:c.3464G>A	XP_016870626.1:p.Gly1155Glu
XM_017015138.1:c.3464G>A	XP_016870627.1:p.Gly1155Glu
XM_024447674.1:c.3407G>A	XP_024303442.1:p.Gly1136Glu
XM_024447675.1:c.3341G>A	XP_024303443.1:p.Gly1114Glu
XM_024447676.1:c.2702G>A	XP_024303444.1:p.Gly901Glu
XM_024447677.1:c.2702G>A	XP_024303445.1:p.Gly901Glu
XM_024447680.1:c.3320G>A	XP_024303448.1:p.Gly1107Glu