Canonical Allele Identifier: CA375781342

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834385G>C , CM000671.2:g.137834385G>C	GRCh38
NC_000009.11:g.140728837G>C , CM000671.1:g.140728837G>C	GRCh37
NC_000009.10:g.139848658G>C	NCBI36
NG_011776.1:g.220394G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3577G>C MANE Select	NP_079033.4:p.Gly1193Arg
ENST00000460843.6:c.3577G>C MANE Select	ENSP00000417980.1:p.Gly1193Arg
NM_001354263.1:c.3556G>C	NP_001341192.1:p.Gly1186Arg
NM_001354263.2:c.3556G>C	NP_001341192.1:p.Gly1186Arg
NM_024757.4:c.3577G>C	NP_079033.4:p.Gly1193Arg
ENST00000460843.5:c.3577G>C	ENSP00000417980.1:p.Gly1193Arg
ENST00000462942.3:c.2398-12175G>C	ENSP00000436107.1:n.2398-12175G>C
ENST00000472849.1:n.349G>C
ENST00000475564.5:n.1301G>C
ENST00000475704.2:n.307G>C
ENST00000494249.5:n.930G>C
ENST00000637161.1:c.3484G>C	ENSP00000490328.1:p.Gly1162Arg
ENST00000637261.1:c.4151G>C	ENSP00000490815.1:n.4151G>C
ENST00000637748.1:n.558G>C
ENST00000637891.1:c.1651G>C	ENSP00000490907.1:n.1651G>C
XM_005266105.3:c.3568G>C	XP_005266162.1:p.Gly1190Arg
XM_005266105.5:c.3568G>C	XP_005266162.1:p.Gly1190Arg
XM_005266110.1:c.3484G>C	XP_005266167.1:p.Gly1162Arg
XM_006717288.2:c.3559G>C	XP_006717351.1:p.Gly1187Arg
XM_011519021.1:c.3586G>C	XP_011517323.1:p.Gly1196Arg
XM_011519021.3:c.3586G>C	XP_011517323.1:p.Gly1196Arg
XM_011519022.1:c.3583G>C	XP_011517324.1:p.Gly1195Arg
XM_011519022.3:c.3583G>C	XP_011517324.1:p.Gly1195Arg
XM_011519023.1:c.3565G>C	XP_011517325.1:p.Gly1189Arg
XM_011519023.3:c.3565G>C	XP_011517325.1:p.Gly1189Arg
XM_011519024.1:c.3508G>C	XP_011517326.1:p.Gly1170Arg
XM_011519025.1:c.3484G>C	XP_011517327.1:p.Gly1162Arg
XM_011519026.1:c.3442G>C	XP_011517328.1:p.Gly1148Arg
XM_011519029.1:c.2008G>C	XP_011517331.1:p.Gly670Arg
XM_011519029.3:c.2008G>C	XP_011517331.1:p.Gly670Arg
XM_011519030.1:c.1360G>C	XP_011517332.1:p.Gly454Arg
XM_011519030.3:c.1360G>C	XP_011517332.1:p.Gly454Arg
XM_011519031.1:c.1147G>C	XP_011517333.1:p.Gly383Arg
XM_011519032.1:c.1147G>C	XP_011517334.1:p.Gly383Arg
XM_011519033.1:c.3421G>C	XP_011517335.1:p.Gly1141Arg
XM_017015134.1:c.3562G>C	XP_016870623.1:p.Gly1188Arg
XM_017015136.2:c.3478G>C	XP_016870625.1:p.Gly1160Arg
XM_017015137.1:c.3463G>C	XP_016870626.1:p.Gly1155Arg
XM_017015138.1:c.3463G>C	XP_016870627.1:p.Gly1155Arg
XM_024447674.1:c.3406G>C	XP_024303442.1:p.Gly1136Arg
XM_024447675.1:c.3340G>C	XP_024303443.1:p.Gly1114Arg
XM_024447676.1:c.2701G>C	XP_024303444.1:p.Gly901Arg
XM_024447677.1:c.2701G>C	XP_024303445.1:p.Gly901Arg
XM_024447680.1:c.3319G>C	XP_024303448.1:p.Gly1107Arg