Canonical Allele Identifier: CA5375067

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811551G>A , CM000671.2:g.137811551G>A	GRCh38
NC_000009.11:g.140706003G>A , CM000671.1:g.140706003G>A	GRCh37
NC_000009.10:g.139825824G>A	NCBI36
NG_011776.1:g.197560G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2803G>A MANE Select	NP_079033.4:p.Val935Met
ENST00000460843.6:c.2803G>A MANE Select	ENSP00000417980.1:p.Val935Met
NM_001354263.1:c.2782G>A	NP_001341192.1:p.Val928Met
NM_001354263.2:c.2782G>A	NP_001341192.1:p.Val928Met
NM_024757.4:c.2803G>A	NP_079033.4:p.Val935Met
ENST00000460843.5:c.2803G>A	ENSP00000417980.1:p.Val935Met
ENST00000462942.3:c.1660G>A	ENSP00000436107.1:p.Val554Met
ENST00000486164.5:c.490G>A
ENST00000488242.2:n.329G>A
ENST00000636027.1:c.2689G>A	ENSP00000489961.1:p.Val897Met
ENST00000637161.1:c.2710G>A	ENSP00000490328.1:p.Val904Met
ENST00000637261.1:c.2843G>A	ENSP00000490815.1:n.2843G>A
ENST00000637891.1:c.697G>A	ENSP00000490907.1:p.Val233Met
XM_005266105.3:c.2794G>A	XP_005266162.1:p.Val932Met
XM_005266105.5:c.2794G>A	XP_005266162.1:p.Val932Met
XM_005266110.1:c.2710G>A	XP_005266167.1:p.Val904Met
XM_006717288.2:c.2785G>A	XP_006717351.1:p.Val929Met
XM_011519021.1:c.2812G>A	XP_011517323.1:p.Val938Met
XM_011519021.3:c.2812G>A	XP_011517323.1:p.Val938Met
XM_011519022.1:c.2809G>A	XP_011517324.1:p.Val937Met
XM_011519022.3:c.2809G>A	XP_011517324.1:p.Val937Met
XM_011519023.1:c.2791G>A	XP_011517325.1:p.Val931Met
XM_011519023.3:c.2791G>A	XP_011517325.1:p.Val931Met
XM_011519024.1:c.2734G>A	XP_011517326.1:p.Val912Met
XM_011519025.1:c.2710G>A	XP_011517327.1:p.Val904Met
XM_011519026.1:c.2668G>A	XP_011517328.1:p.Val890Met
XM_011519029.1:c.1234G>A	XP_011517331.1:p.Val412Met
XM_011519029.3:c.1234G>A	XP_011517331.1:p.Val412Met
XM_011519030.1:c.586G>A	XP_011517332.1:p.Val196Met
XM_011519030.3:c.586G>A	XP_011517332.1:p.Val196Met
XM_011519031.1:c.373G>A	XP_011517333.1:p.Val125Met
XM_011519032.1:c.373G>A	XP_011517334.1:p.Val125Met
XM_011519033.1:c.2647G>A	XP_011517335.1:p.Val883Met
XM_017015134.1:c.2788G>A	XP_016870623.1:p.Val930Met
XM_017015136.2:c.2704G>A	XP_016870625.1:p.Val902Met
XM_017015137.1:c.2689G>A	XP_016870626.1:p.Val897Met
XM_017015138.1:c.2689G>A	XP_016870627.1:p.Val897Met
XM_024447674.1:c.2632G>A	XP_024303442.1:p.Val878Met
XM_024447675.1:c.2566G>A	XP_024303443.1:p.Val856Met
XM_024447676.1:c.1927G>A	XP_024303444.1:p.Val643Met
XM_024447677.1:c.1927G>A	XP_024303445.1:p.Val643Met
XM_024447680.1:c.2545G>A	XP_024303448.1:p.Val849Met