Canonical Allele Identifier: CA5375296

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137817439G>C , CM000671.2:g.137817439G>C	GRCh38
NC_000009.11:g.140711891G>C , CM000671.1:g.140711891G>C	GRCh37
NC_000009.10:g.139831712G>C	NCBI36
NG_011776.1:g.203448G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3375G>C MANE Select	NP_079033.4:p.Arg1125Ser
ENST00000460843.6:c.3375G>C MANE Select	ENSP00000417980.1:p.Arg1125Ser
NM_001354263.1:c.3354G>C	NP_001341192.1:p.Arg1118Ser
NM_001354263.2:c.3354G>C	NP_001341192.1:p.Arg1118Ser
NM_024757.4:c.3375G>C	NP_079033.4:p.Arg1125Ser
ENST00000460843.5:c.3375G>C	ENSP00000417980.1:p.Arg1125Ser
ENST00000462942.3:c.2232G>C	ENSP00000436107.1:p.Arg744Ser
ENST00000475564.5:n.1099G>C
ENST00000494249.5:n.728G>C
ENST00000637161.1:c.3282G>C	ENSP00000490328.1:p.Arg1094Ser
ENST00000637261.1:c.3415G>C	ENSP00000490815.1:n.3415G>C
ENST00000637748.1:n.356G>C
ENST00000637784.1:n.28G>C
ENST00000637891.1:c.1449G>C	ENSP00000490907.1:n.1449G>C
XM_005266105.3:c.3366G>C	XP_005266162.1:p.Arg1122Ser
XM_005266105.5:c.3366G>C	XP_005266162.1:p.Arg1122Ser
XM_005266110.1:c.3282G>C	XP_005266167.1:p.Arg1094Ser
XM_006717288.2:c.3357G>C	XP_006717351.1:p.Arg1119Ser
XM_011519021.1:c.3384G>C	XP_011517323.1:p.Arg1128Ser
XM_011519021.3:c.3384G>C	XP_011517323.1:p.Arg1128Ser
XM_011519022.1:c.3381G>C	XP_011517324.1:p.Arg1127Ser
XM_011519022.3:c.3381G>C	XP_011517324.1:p.Arg1127Ser
XM_011519023.1:c.3363G>C	XP_011517325.1:p.Arg1121Ser
XM_011519023.3:c.3363G>C	XP_011517325.1:p.Arg1121Ser
XM_011519024.1:c.3306G>C	XP_011517326.1:p.Arg1102Ser
XM_011519025.1:c.3282G>C	XP_011517327.1:p.Arg1094Ser
XM_011519026.1:c.3240G>C	XP_011517328.1:p.Arg1080Ser
XM_011519029.1:c.1806G>C	XP_011517331.1:p.Arg602Ser
XM_011519029.3:c.1806G>C	XP_011517331.1:p.Arg602Ser
XM_011519030.1:c.1158G>C	XP_011517332.1:p.Arg386Ser
XM_011519030.3:c.1158G>C	XP_011517332.1:p.Arg386Ser
XM_011519031.1:c.945G>C	XP_011517333.1:p.Arg315Ser
XM_011519032.1:c.945G>C	XP_011517334.1:p.Arg315Ser
XM_011519033.1:c.3219G>C	XP_011517335.1:p.Arg1073Ser
XM_017015134.1:c.3360G>C	XP_016870623.1:p.Arg1120Ser
XM_017015136.2:c.3276G>C	XP_016870625.1:p.Arg1092Ser
XM_017015137.1:c.3261G>C	XP_016870626.1:p.Arg1087Ser
XM_017015138.1:c.3261G>C	XP_016870627.1:p.Arg1087Ser
XM_024447674.1:c.3204G>C	XP_024303442.1:p.Arg1068Ser
XM_024447675.1:c.3138G>C	XP_024303443.1:p.Arg1046Ser
XM_024447676.1:c.2499G>C	XP_024303444.1:p.Arg833Ser
XM_024447677.1:c.2499G>C	XP_024303445.1:p.Arg833Ser
XM_024447680.1:c.3117G>C	XP_024303448.1:p.Arg1039Ser
XR_930459.1:n.5297-2877C>G