Canonical Allele Identifier: CA375763050

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137754208G>A , CM000671.2:g.137754208G>A	GRCh38
NC_000009.11:g.140648660G>A , CM000671.1:g.140648660G>A	GRCh37
NC_000009.10:g.139768481G>A	NCBI36
NG_011776.1:g.140217G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.1286G>A MANE Select	NP_079033.4:p.Arg429Lys
ENST00000460843.6:c.1286G>A MANE Select	ENSP00000417980.1:p.Arg429Lys
NM_001145527.1:c.1286G>A	NP_001138999.1:p.Arg429Lys
NM_001145527.2:c.1286G>A	NP_001138999.1:p.Arg429Lys
NM_001354259.1:c.1193G>A	NP_001341188.1:p.Arg398Lys
NM_001354259.2:c.1193G>A	NP_001341188.1:p.Arg398Lys
NM_001354263.1:c.1265G>A	NP_001341192.1:p.Arg422Lys
NM_001354263.2:c.1265G>A	NP_001341192.1:p.Arg422Lys
NM_001354611.1:c.1286G>A	NP_001341540.1:p.Arg429Lys
NM_001354611.2:c.1286G>A	NP_001341540.1:p.Arg429Lys
NM_001354612.1:c.1193G>A	NP_001341541.1:p.Arg398Lys
NM_001354612.2:c.1193G>A	NP_001341541.1:p.Arg398Lys
NM_024757.4:c.1286G>A	NP_079033.4:p.Arg429Lys
ENST00000371394.6:c.*1021G>A	ENSP00000485945.1:n.*1021G>A
ENST00000460843.5:c.1286G>A	ENSP00000417980.1:p.Arg429Lys
ENST00000462484.5:c.1286G>A	ENSP00000417328.1:p.Arg429Lys
ENST00000462942.3:c.143G>A	ENSP00000436107.1:p.Arg48Lys
ENST00000495657.5:n.636G>A
ENST00000626066.2:c.1189G>A
ENST00000629335.2:c.1286G>A	ENSP00000490056.1:p.Arg429Lys
ENST00000629808.2:c.379G>A
ENST00000636027.1:c.1172G>A	ENSP00000489961.1:p.Arg391Lys
ENST00000637161.1:c.1193G>A	ENSP00000490328.1:p.Arg398Lys
ENST00000637261.1:c.1326G>A	ENSP00000490815.1:n.1326G>A
ENST00000637977.1:c.1231G>A
ENST00000638071.1:c.913G>A
ENST00000640639.1:c.455G>A	ENSP00000491823.1:p.Arg152Lys
XM_005266105.3:c.1277G>A	XP_005266162.1:p.Arg426Lys
XM_005266105.5:c.1277G>A	XP_005266162.1:p.Arg426Lys
XM_005266110.1:c.1193G>A	XP_005266167.1:p.Arg398Lys
XM_006717288.2:c.1268G>A	XP_006717351.1:p.Arg423Lys
XM_011519021.1:c.1295G>A	XP_011517323.1:p.Arg432Lys
XM_011519021.3:c.1295G>A	XP_011517323.1:p.Arg432Lys
XM_011519022.1:c.1292G>A	XP_011517324.1:p.Arg431Lys
XM_011519022.3:c.1292G>A	XP_011517324.1:p.Arg431Lys
XM_011519023.1:c.1274G>A	XP_011517325.1:p.Arg425Lys
XM_011519023.3:c.1274G>A	XP_011517325.1:p.Arg425Lys
XM_011519024.1:c.1217G>A	XP_011517326.1:p.Arg406Lys
XM_011519025.1:c.1193G>A	XP_011517327.1:p.Arg398Lys
XM_011519026.1:c.1295G>A	XP_011517328.1:p.Arg432Lys
XM_011519027.1:c.1295G>A	XP_011517329.1:p.Arg432Lys
XM_011519028.1:c.1295G>A	XP_011517330.1:p.Arg432Lys
XM_011519033.1:c.1274G>A	XP_011517335.1:p.Arg425Lys
XM_017015134.1:c.1271G>A	XP_016870623.1:p.Arg424Lys
XM_017015136.2:c.1187G>A	XP_016870625.1:p.Arg396Lys
XM_017015137.1:c.1172G>A	XP_016870626.1:p.Arg391Lys
XM_017015138.1:c.1172G>A	XP_016870627.1:p.Arg391Lys
XM_024447674.1:c.1115G>A	XP_024303442.1:p.Arg372Lys
XM_024447675.1:c.1193G>A	XP_024303443.1:p.Arg398Lys
XM_024447676.1:c.410G>A	XP_024303444.1:p.Arg137Lys
XM_024447677.1:c.410G>A	XP_024303445.1:p.Arg137Lys
XM_024447678.1:c.1193G>A	XP_024303446.1:p.Arg398Lys
XM_024447679.1:c.1193G>A	XP_024303447.1:p.Arg398Lys
XM_024447680.1:c.1172G>A	XP_024303448.1:p.Arg391Lys