Canonical Allele Identifier: CA5375308

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137817486G>A , CM000671.2:g.137817486G>A	GRCh38
NC_000009.11:g.140711938G>A , CM000671.1:g.140711938G>A	GRCh37
NC_000009.10:g.139831759G>A	NCBI36
NG_011776.1:g.203495G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3422G>A MANE Select	NP_079033.4:p.Arg1141Gln
ENST00000460843.6:c.3422G>A MANE Select	ENSP00000417980.1:p.Arg1141Gln
NM_001354263.1:c.3401G>A	NP_001341192.1:p.Arg1134Gln
NM_001354263.2:c.3401G>A	NP_001341192.1:p.Arg1134Gln
NM_024757.4:c.3422G>A	NP_079033.4:p.Arg1141Gln
ENST00000460843.5:c.3422G>A	ENSP00000417980.1:p.Arg1141Gln
ENST00000462942.3:c.2279G>A	ENSP00000436107.1:p.Arg760Gln
ENST00000475564.5:n.1146G>A
ENST00000494249.5:n.775G>A
ENST00000637161.1:c.3329G>A	ENSP00000490328.1:p.Arg1110Gln
ENST00000637261.1:c.3462G>A	ENSP00000490815.1:n.3462G>A
ENST00000637748.1:n.403G>A
ENST00000637784.1:n.75G>A
ENST00000637891.1:c.1496G>A	ENSP00000490907.1:n.1496G>A
XM_005266105.3:c.3413G>A	XP_005266162.1:p.Arg1138Gln
XM_005266105.5:c.3413G>A	XP_005266162.1:p.Arg1138Gln
XM_005266110.1:c.3329G>A	XP_005266167.1:p.Arg1110Gln
XM_006717288.2:c.3404G>A	XP_006717351.1:p.Arg1135Gln
XM_011519021.1:c.3431G>A	XP_011517323.1:p.Arg1144Gln
XM_011519021.3:c.3431G>A	XP_011517323.1:p.Arg1144Gln
XM_011519022.1:c.3428G>A	XP_011517324.1:p.Arg1143Gln
XM_011519022.3:c.3428G>A	XP_011517324.1:p.Arg1143Gln
XM_011519023.1:c.3410G>A	XP_011517325.1:p.Arg1137Gln
XM_011519023.3:c.3410G>A	XP_011517325.1:p.Arg1137Gln
XM_011519024.1:c.3353G>A	XP_011517326.1:p.Arg1118Gln
XM_011519025.1:c.3329G>A	XP_011517327.1:p.Arg1110Gln
XM_011519026.1:c.3287G>A	XP_011517328.1:p.Arg1096Gln
XM_011519029.1:c.1853G>A	XP_011517331.1:p.Arg618Gln
XM_011519029.3:c.1853G>A	XP_011517331.1:p.Arg618Gln
XM_011519030.1:c.1205G>A	XP_011517332.1:p.Arg402Gln
XM_011519030.3:c.1205G>A	XP_011517332.1:p.Arg402Gln
XM_011519031.1:c.992G>A	XP_011517333.1:p.Arg331Gln
XM_011519032.1:c.992G>A	XP_011517334.1:p.Arg331Gln
XM_011519033.1:c.3266G>A	XP_011517335.1:p.Arg1089Gln
XM_017015134.1:c.3407G>A	XP_016870623.1:p.Arg1136Gln
XM_017015136.2:c.3323G>A	XP_016870625.1:p.Arg1108Gln
XM_017015137.1:c.3308G>A	XP_016870626.1:p.Arg1103Gln
XM_017015138.1:c.3308G>A	XP_016870627.1:p.Arg1103Gln
XM_024447674.1:c.3251G>A	XP_024303442.1:p.Arg1084Gln
XM_024447675.1:c.3185G>A	XP_024303443.1:p.Arg1062Gln
XM_024447676.1:c.2546G>A	XP_024303444.1:p.Arg849Gln
XM_024447677.1:c.2546G>A	XP_024303445.1:p.Arg849Gln
XM_024447680.1:c.3164G>A	XP_024303448.1:p.Arg1055Gln
XR_930459.1:n.5297-2924C>T