Canonical Allele Identifier: CA5375217

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137814471T>C , CM000671.2:g.137814471T>C	GRCh38
NC_000009.11:g.140708923T>C , CM000671.1:g.140708923T>C	GRCh37
NC_000009.10:g.139828744T>C	NCBI36
NG_011776.1:g.200480T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3221T>C MANE Select	NP_079033.4:p.Met1074Thr
ENST00000460843.6:c.3221T>C MANE Select	ENSP00000417980.1:p.Met1074Thr
NM_001354263.1:c.3200T>C	NP_001341192.1:p.Met1067Thr
NM_001354263.2:c.3200T>C	NP_001341192.1:p.Met1067Thr
NM_024757.4:c.3221T>C	NP_079033.4:p.Met1074Thr
ENST00000460843.5:c.3221T>C	ENSP00000417980.1:p.Met1074Thr
ENST00000462942.3:c.2078T>C	ENSP00000436107.1:p.Met693Thr
ENST00000483653.1:n.81T>C
ENST00000488242.2:n.747T>C
ENST00000637161.1:c.3128T>C	ENSP00000490328.1:p.Met1043Thr
ENST00000637261.1:c.3261T>C	ENSP00000490815.1:n.3261T>C
ENST00000637407.1:n.12T>C
ENST00000637891.1:c.1295T>C	ENSP00000490907.1:n.1295T>C
XM_005266105.3:c.3212T>C	XP_005266162.1:p.Met1071Thr
XM_005266105.5:c.3212T>C	XP_005266162.1:p.Met1071Thr
XM_005266110.1:c.3128T>C	XP_005266167.1:p.Met1043Thr
XM_006717288.2:c.3203T>C	XP_006717351.1:p.Met1068Thr
XM_011519021.1:c.3230T>C	XP_011517323.1:p.Met1077Thr
XM_011519021.3:c.3230T>C	XP_011517323.1:p.Met1077Thr
XM_011519022.1:c.3227T>C	XP_011517324.1:p.Met1076Thr
XM_011519022.3:c.3227T>C	XP_011517324.1:p.Met1076Thr
XM_011519023.1:c.3209T>C	XP_011517325.1:p.Met1070Thr
XM_011519023.3:c.3209T>C	XP_011517325.1:p.Met1070Thr
XM_011519024.1:c.3152T>C	XP_011517326.1:p.Met1051Thr
XM_011519025.1:c.3128T>C	XP_011517327.1:p.Met1043Thr
XM_011519026.1:c.3086T>C	XP_011517328.1:p.Met1029Thr
XM_011519029.1:c.1652T>C	XP_011517331.1:p.Met551Thr
XM_011519029.3:c.1652T>C	XP_011517331.1:p.Met551Thr
XM_011519030.1:c.1004T>C	XP_011517332.1:p.Met335Thr
XM_011519030.3:c.1004T>C	XP_011517332.1:p.Met335Thr
XM_011519031.1:c.791T>C	XP_011517333.1:p.Met264Thr
XM_011519032.1:c.791T>C	XP_011517334.1:p.Met264Thr
XM_011519033.1:c.3065T>C	XP_011517335.1:p.Met1022Thr
XM_017015134.1:c.3206T>C	XP_016870623.1:p.Met1069Thr
XM_017015136.2:c.3122T>C	XP_016870625.1:p.Met1041Thr
XM_017015137.1:c.3107T>C	XP_016870626.1:p.Met1036Thr
XM_017015138.1:c.3107T>C	XP_016870627.1:p.Met1036Thr
XM_024447674.1:c.3050T>C	XP_024303442.1:p.Met1017Thr
XM_024447675.1:c.2984T>C	XP_024303443.1:p.Met995Thr
XM_024447676.1:c.2345T>C	XP_024303444.1:p.Met782Thr
XM_024447677.1:c.2345T>C	XP_024303445.1:p.Met782Thr
XM_024447680.1:c.2963T>C	XP_024303448.1:p.Met988Thr