Canonical Allele Identifier: CA16618818

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137790885G>A , CM000671.2:g.137790885G>A	GRCh38
NC_000009.11:g.140685337G>A , CM000671.1:g.140685337G>A	GRCh37
NC_000009.10:g.139805158G>A	NCBI36
NG_011776.1:g.176894G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2420G>A MANE Select	NP_079033.4:p.Arg807Lys
ENST00000460843.6:c.2420G>A MANE Select	ENSP00000417980.1:p.Arg807Lys
NM_001354259.1:c.2327G>A	NP_001341188.1:p.Arg776Lys
NM_001354259.2:c.2327G>A	NP_001341188.1:p.Arg776Lys
NM_001354263.1:c.2399G>A	NP_001341192.1:p.Arg800Lys
NM_001354263.2:c.2399G>A	NP_001341192.1:p.Arg800Lys
NM_024757.4:c.2420G>A	NP_079033.4:p.Arg807Lys
ENST00000371394.6:c.*2155G>A	ENSP00000485945.1:n.*2155G>A
ENST00000460843.5:c.2420G>A	ENSP00000417980.1:p.Arg807Lys
ENST00000462942.3:c.1277G>A	ENSP00000436107.1:p.Arg426Lys
ENST00000482340.5:c.-11G>A	ENSP00000486748.1:n.-11G>A
ENST00000493484.5:c.-11G>A	ENSP00000486503.1:n.-11G>A
ENST00000636027.1:c.2306G>A	ENSP00000489961.1:p.Arg769Lys
ENST00000636565.1:n.2G>A
ENST00000637161.1:c.2327G>A	ENSP00000490328.1:p.Arg776Lys
ENST00000637261.1:c.2460G>A	ENSP00000490815.1:n.2460G>A
ENST00000637891.1:c.314G>A	ENSP00000490907.1:p.Arg105Lys
ENST00000637949.1:c.98G>A	ENSP00000489786.1:p.Arg33Lys
XM_005266105.3:c.2411G>A	XP_005266162.1:p.Arg804Lys
XM_005266105.5:c.2411G>A	XP_005266162.1:p.Arg804Lys
XM_005266110.1:c.2327G>A	XP_005266167.1:p.Arg776Lys
XM_006717288.2:c.2402G>A	XP_006717351.1:p.Arg801Lys
XM_011519021.1:c.2429G>A	XP_011517323.1:p.Arg810Lys
XM_011519021.3:c.2429G>A	XP_011517323.1:p.Arg810Lys
XM_011519022.1:c.2426G>A	XP_011517324.1:p.Arg809Lys
XM_011519022.3:c.2426G>A	XP_011517324.1:p.Arg809Lys
XM_011519023.1:c.2408G>A	XP_011517325.1:p.Arg803Lys
XM_011519023.3:c.2408G>A	XP_011517325.1:p.Arg803Lys
XM_011519024.1:c.2351G>A	XP_011517326.1:p.Arg784Lys
XM_011519025.1:c.2327G>A	XP_011517327.1:p.Arg776Lys
XM_011519026.1:c.2285G>A	XP_011517328.1:p.Arg762Lys
XM_011519027.1:c.2429G>A	XP_011517329.1:p.Arg810Lys
XM_011519029.1:c.851G>A	XP_011517331.1:p.Arg284Lys
XM_011519029.3:c.851G>A	XP_011517331.1:p.Arg284Lys
XM_011519030.1:c.203G>A	XP_011517332.1:p.Arg68Lys
XM_011519030.3:c.203G>A	XP_011517332.1:p.Arg68Lys
XM_011519031.1:c.-11G>A	XP_011517333.1:n.-11G>A
XM_011519032.1:c.-11G>A	XP_011517334.1:n.-11G>A
XM_011519033.1:c.2264G>A	XP_011517335.1:p.Arg755Lys
XM_017015134.1:c.2405G>A	XP_016870623.1:p.Arg802Lys
XM_017015136.2:c.2321G>A	XP_016870625.1:p.Arg774Lys
XM_017015137.1:c.2306G>A	XP_016870626.1:p.Arg769Lys
XM_017015138.1:c.2306G>A	XP_016870627.1:p.Arg769Lys
XM_024447674.1:c.2249G>A	XP_024303442.1:p.Arg750Lys
XM_024447675.1:c.2183G>A	XP_024303443.1:p.Arg728Lys
XM_024447676.1:c.1544G>A	XP_024303444.1:p.Arg515Lys
XM_024447677.1:c.1544G>A	XP_024303445.1:p.Arg515Lys
XM_024447678.1:c.2327G>A	XP_024303446.1:p.Arg776Lys
XM_024447680.1:c.2162G>A	XP_024303448.1:p.Arg721Lys