Canonical Allele Identifier: CA201845810

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137815954G>A , CM000671.2:g.137815954G>A	GRCh38
NC_000009.11:g.140710406G>A , CM000671.1:g.140710406G>A	GRCh37
NC_000009.10:g.139830227G>A	NCBI36
NG_011776.1:g.201963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3266G>A MANE Select	NP_079033.4:p.Arg1089Gln
ENST00000460843.6:c.3266G>A MANE Select	ENSP00000417980.1:p.Arg1089Gln
NM_001354263.1:c.3245G>A	NP_001341192.1:p.Arg1082Gln
NM_001354263.2:c.3245G>A	NP_001341192.1:p.Arg1082Gln
NM_024757.4:c.3266G>A	NP_079033.4:p.Arg1089Gln
ENST00000460843.5:c.3266G>A	ENSP00000417980.1:p.Arg1089Gln
ENST00000462942.3:c.2123G>A	ENSP00000436107.1:p.Arg708Gln
ENST00000494249.5:n.619G>A
ENST00000635987.1:n.73G>A
ENST00000636463.1:n.71G>A
ENST00000637161.1:c.3173G>A	ENSP00000490328.1:p.Arg1058Gln
ENST00000637261.1:c.3306G>A	ENSP00000490815.1:n.3306G>A
ENST00000637748.1:n.203G>A
ENST00000637891.1:c.1340G>A	ENSP00000490907.1:n.1340G>A
XM_005266105.3:c.3257G>A	XP_005266162.1:p.Arg1086Gln
XM_005266105.5:c.3257G>A	XP_005266162.1:p.Arg1086Gln
XM_005266110.1:c.3173G>A	XP_005266167.1:p.Arg1058Gln
XM_006717288.2:c.3248G>A	XP_006717351.1:p.Arg1083Gln
XM_011519021.1:c.3275G>A	XP_011517323.1:p.Arg1092Gln
XM_011519021.3:c.3275G>A	XP_011517323.1:p.Arg1092Gln
XM_011519022.1:c.3272G>A	XP_011517324.1:p.Arg1091Gln
XM_011519022.3:c.3272G>A	XP_011517324.1:p.Arg1091Gln
XM_011519023.1:c.3254G>A	XP_011517325.1:p.Arg1085Gln
XM_011519023.3:c.3254G>A	XP_011517325.1:p.Arg1085Gln
XM_011519024.1:c.3197G>A	XP_011517326.1:p.Arg1066Gln
XM_011519025.1:c.3173G>A	XP_011517327.1:p.Arg1058Gln
XM_011519026.1:c.3131G>A	XP_011517328.1:p.Arg1044Gln
XM_011519029.1:c.1697G>A	XP_011517331.1:p.Arg566Gln
XM_011519029.3:c.1697G>A	XP_011517331.1:p.Arg566Gln
XM_011519030.1:c.1049G>A	XP_011517332.1:p.Arg350Gln
XM_011519030.3:c.1049G>A	XP_011517332.1:p.Arg350Gln
XM_011519031.1:c.836G>A	XP_011517333.1:p.Arg279Gln
XM_011519032.1:c.836G>A	XP_011517334.1:p.Arg279Gln
XM_011519033.1:c.3110G>A	XP_011517335.1:p.Arg1037Gln
XM_017015134.1:c.3251G>A	XP_016870623.1:p.Arg1084Gln
XM_017015136.2:c.3167G>A	XP_016870625.1:p.Arg1056Gln
XM_017015137.1:c.3152G>A	XP_016870626.1:p.Arg1051Gln
XM_017015138.1:c.3152G>A	XP_016870627.1:p.Arg1051Gln
XM_024447674.1:c.3095G>A	XP_024303442.1:p.Arg1032Gln
XM_024447675.1:c.3029G>A	XP_024303443.1:p.Arg1010Gln
XM_024447676.1:c.2390G>A	XP_024303444.1:p.Arg797Gln
XM_024447677.1:c.2390G>A	XP_024303445.1:p.Arg797Gln
XM_024447680.1:c.3008G>A	XP_024303448.1:p.Arg1003Gln
XR_930459.1:n.5297-1392C>T