Canonical Allele Identifier: CA5375405

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834449T>C , CM000671.2:g.137834449T>C	GRCh38
NC_000009.11:g.140728901T>C , CM000671.1:g.140728901T>C	GRCh37
NC_000009.10:g.139848722T>C	NCBI36
NG_011776.1:g.220458T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3641T>C MANE Select	NP_079033.4:p.Met1214Thr
ENST00000460843.6:c.3641T>C MANE Select	ENSP00000417980.1:p.Met1214Thr
NM_001354263.1:c.3620T>C	NP_001341192.1:p.Met1207Thr
NM_001354263.2:c.3620T>C	NP_001341192.1:p.Met1207Thr
NM_024757.4:c.3641T>C	NP_079033.4:p.Met1214Thr
ENST00000460843.5:c.3641T>C	ENSP00000417980.1:p.Met1214Thr
ENST00000462942.3:c.2398-12111T>C	ENSP00000436107.1:n.2398-12111T>C
ENST00000472849.1:n.413T>C
ENST00000475564.5:n.1365T>C
ENST00000475704.2:n.371T>C
ENST00000494249.5:n.994T>C
ENST00000637161.1:c.3548T>C	ENSP00000490328.1:p.Met1183Thr
ENST00000637748.1:n.622T>C
ENST00000637891.1:c.1715T>C	ENSP00000490907.1:n.1715T>C
XM_005266105.3:c.3632T>C	XP_005266162.1:p.Met1211Thr
XM_005266105.5:c.3632T>C	XP_005266162.1:p.Met1211Thr
XM_005266110.1:c.3548T>C	XP_005266167.1:p.Met1183Thr
XM_006717288.2:c.3623T>C	XP_006717351.1:p.Met1208Thr
XM_011519021.1:c.3650T>C	XP_011517323.1:p.Met1217Thr
XM_011519021.3:c.3650T>C	XP_011517323.1:p.Met1217Thr
XM_011519022.1:c.3647T>C	XP_011517324.1:p.Met1216Thr
XM_011519022.3:c.3647T>C	XP_011517324.1:p.Met1216Thr
XM_011519023.1:c.3629T>C	XP_011517325.1:p.Met1210Thr
XM_011519023.3:c.3629T>C	XP_011517325.1:p.Met1210Thr
XM_011519024.1:c.3572T>C	XP_011517326.1:p.Met1191Thr
XM_011519025.1:c.3548T>C	XP_011517327.1:p.Met1183Thr
XM_011519026.1:c.3506T>C	XP_011517328.1:p.Met1169Thr
XM_011519029.1:c.2072T>C	XP_011517331.1:p.Met691Thr
XM_011519029.3:c.2072T>C	XP_011517331.1:p.Met691Thr
XM_011519030.1:c.1424T>C	XP_011517332.1:p.Met475Thr
XM_011519030.3:c.1424T>C	XP_011517332.1:p.Met475Thr
XM_011519031.1:c.1211T>C	XP_011517333.1:p.Met404Thr
XM_011519032.1:c.1211T>C	XP_011517334.1:p.Met404Thr
XM_011519033.1:c.3485T>C	XP_011517335.1:p.Met1162Thr
XM_017015134.1:c.3626T>C	XP_016870623.1:p.Met1209Thr
XM_017015136.2:c.3542T>C	XP_016870625.1:p.Met1181Thr
XM_017015137.1:c.3527T>C	XP_016870626.1:p.Met1176Thr
XM_017015138.1:c.3527T>C	XP_016870627.1:p.Met1176Thr
XM_024447674.1:c.3470T>C	XP_024303442.1:p.Met1157Thr
XM_024447675.1:c.3404T>C	XP_024303443.1:p.Met1135Thr
XM_024447676.1:c.2765T>C	XP_024303444.1:p.Met922Thr
XM_024447677.1:c.2765T>C	XP_024303445.1:p.Met922Thr
XM_024447680.1:c.3383T>C	XP_024303448.1:p.Met1128Thr