Canonical Allele Identifier: CA375794869

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137814462G>C , CM000671.2:g.137814462G>C	GRCh38
NC_000009.11:g.140708914G>C , CM000671.1:g.140708914G>C	GRCh37
NC_000009.10:g.139828735G>C	NCBI36
NG_011776.1:g.200471G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3212G>C MANE Select	NP_079033.4:p.Ser1071Thr
ENST00000460843.6:c.3212G>C MANE Select	ENSP00000417980.1:p.Ser1071Thr
NM_001354263.1:c.3191G>C	NP_001341192.1:p.Ser1064Thr
NM_001354263.2:c.3191G>C	NP_001341192.1:p.Ser1064Thr
NM_024757.4:c.3212G>C	NP_079033.4:p.Ser1071Thr
ENST00000460843.5:c.3212G>C	ENSP00000417980.1:p.Ser1071Thr
ENST00000462942.3:c.2069G>C	ENSP00000436107.1:p.Ser690Thr
ENST00000483653.1:n.72G>C
ENST00000488242.2:n.738G>C
ENST00000637161.1:c.3119G>C	ENSP00000490328.1:p.Ser1040Thr
ENST00000637261.1:c.3252G>C	ENSP00000490815.1:n.3252G>C
ENST00000637407.1:n.3G>C
ENST00000637891.1:c.1286G>C	ENSP00000490907.1:n.1286G>C
XM_005266105.3:c.3203G>C	XP_005266162.1:p.Ser1068Thr
XM_005266105.5:c.3203G>C	XP_005266162.1:p.Ser1068Thr
XM_005266110.1:c.3119G>C	XP_005266167.1:p.Ser1040Thr
XM_006717288.2:c.3194G>C	XP_006717351.1:p.Ser1065Thr
XM_011519021.1:c.3221G>C	XP_011517323.1:p.Ser1074Thr
XM_011519021.3:c.3221G>C	XP_011517323.1:p.Ser1074Thr
XM_011519022.1:c.3218G>C	XP_011517324.1:p.Ser1073Thr
XM_011519022.3:c.3218G>C	XP_011517324.1:p.Ser1073Thr
XM_011519023.1:c.3200G>C	XP_011517325.1:p.Ser1067Thr
XM_011519023.3:c.3200G>C	XP_011517325.1:p.Ser1067Thr
XM_011519024.1:c.3143G>C	XP_011517326.1:p.Ser1048Thr
XM_011519025.1:c.3119G>C	XP_011517327.1:p.Ser1040Thr
XM_011519026.1:c.3077G>C	XP_011517328.1:p.Ser1026Thr
XM_011519029.1:c.1643G>C	XP_011517331.1:p.Ser548Thr
XM_011519029.3:c.1643G>C	XP_011517331.1:p.Ser548Thr
XM_011519030.1:c.995G>C	XP_011517332.1:p.Ser332Thr
XM_011519030.3:c.995G>C	XP_011517332.1:p.Ser332Thr
XM_011519031.1:c.782G>C	XP_011517333.1:p.Ser261Thr
XM_011519032.1:c.782G>C	XP_011517334.1:p.Ser261Thr
XM_011519033.1:c.3056G>C	XP_011517335.1:p.Ser1019Thr
XM_017015134.1:c.3197G>C	XP_016870623.1:p.Ser1066Thr
XM_017015136.2:c.3113G>C	XP_016870625.1:p.Ser1038Thr
XM_017015137.1:c.3098G>C	XP_016870626.1:p.Ser1033Thr
XM_017015138.1:c.3098G>C	XP_016870627.1:p.Ser1033Thr
XM_024447674.1:c.3041G>C	XP_024303442.1:p.Ser1014Thr
XM_024447675.1:c.2975G>C	XP_024303443.1:p.Ser992Thr
XM_024447676.1:c.2336G>C	XP_024303444.1:p.Ser779Thr
XM_024447677.1:c.2336G>C	XP_024303445.1:p.Ser779Thr
XM_024447680.1:c.2954G>C	XP_024303448.1:p.Ser985Thr