Canonical Allele Identifier: CA375785548

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137790908G>A , CM000671.2:g.137790908G>A	GRCh38
NC_000009.11:g.140685360G>A , CM000671.1:g.140685360G>A	GRCh37
NC_000009.10:g.139805181G>A	NCBI36
NG_011776.1:g.176917G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2443G>A MANE Select	NP_079033.4:p.Glu815Lys
ENST00000460843.6:c.2443G>A MANE Select	ENSP00000417980.1:p.Glu815Lys
NM_001354259.1:c.2350G>A	NP_001341188.1:p.Glu784Lys
NM_001354259.2:c.2350G>A	NP_001341188.1:p.Glu784Lys
NM_001354263.1:c.2422G>A	NP_001341192.1:p.Glu808Lys
NM_001354263.2:c.2422G>A	NP_001341192.1:p.Glu808Lys
NM_024757.4:c.2443G>A	NP_079033.4:p.Glu815Lys
ENST00000371394.6:c.*2178G>A	ENSP00000485945.1:n.*2178G>A
ENST00000460843.5:c.2443G>A	ENSP00000417980.1:p.Glu815Lys
ENST00000462942.3:c.1300G>A	ENSP00000436107.1:p.Glu434Lys
ENST00000482340.5:c.13G>A	ENSP00000486748.1:p.Glu5Lys
ENST00000486164.5:c.21G>A
ENST00000493484.5:c.13G>A	ENSP00000486503.1:p.Glu5Lys
ENST00000636027.1:c.2329G>A	ENSP00000489961.1:p.Glu777Lys
ENST00000636565.1:n.25G>A
ENST00000637161.1:c.2350G>A	ENSP00000490328.1:p.Glu784Lys
ENST00000637261.1:c.2483G>A	ENSP00000490815.1:n.2483G>A
ENST00000637891.1:c.337G>A	ENSP00000490907.1:p.Glu113Lys
ENST00000637949.1:c.121G>A	ENSP00000489786.1:p.Glu41Lys
XM_005266105.3:c.2434G>A	XP_005266162.1:p.Glu812Lys
XM_005266105.5:c.2434G>A	XP_005266162.1:p.Glu812Lys
XM_005266110.1:c.2350G>A	XP_005266167.1:p.Glu784Lys
XM_006717288.2:c.2425G>A	XP_006717351.1:p.Glu809Lys
XM_011519021.1:c.2452G>A	XP_011517323.1:p.Glu818Lys
XM_011519021.3:c.2452G>A	XP_011517323.1:p.Glu818Lys
XM_011519022.1:c.2449G>A	XP_011517324.1:p.Glu817Lys
XM_011519022.3:c.2449G>A	XP_011517324.1:p.Glu817Lys
XM_011519023.1:c.2431G>A	XP_011517325.1:p.Glu811Lys
XM_011519023.3:c.2431G>A	XP_011517325.1:p.Glu811Lys
XM_011519024.1:c.2374G>A	XP_011517326.1:p.Glu792Lys
XM_011519025.1:c.2350G>A	XP_011517327.1:p.Glu784Lys
XM_011519026.1:c.2308G>A	XP_011517328.1:p.Glu770Lys
XM_011519027.1:c.2452G>A	XP_011517329.1:p.Glu818Lys
XM_011519029.1:c.874G>A	XP_011517331.1:p.Glu292Lys
XM_011519029.3:c.874G>A	XP_011517331.1:p.Glu292Lys
XM_011519030.1:c.226G>A	XP_011517332.1:p.Glu76Lys
XM_011519030.3:c.226G>A	XP_011517332.1:p.Glu76Lys
XM_011519031.1:c.13G>A	XP_011517333.1:p.Glu5Lys
XM_011519032.1:c.13G>A	XP_011517334.1:p.Glu5Lys
XM_011519033.1:c.2287G>A	XP_011517335.1:p.Glu763Lys
XM_017015134.1:c.2428G>A	XP_016870623.1:p.Glu810Lys
XM_017015136.2:c.2344G>A	XP_016870625.1:p.Glu782Lys
XM_017015137.1:c.2329G>A	XP_016870626.1:p.Glu777Lys
XM_017015138.1:c.2329G>A	XP_016870627.1:p.Glu777Lys
XM_024447674.1:c.2272G>A	XP_024303442.1:p.Glu758Lys
XM_024447675.1:c.2206G>A	XP_024303443.1:p.Glu736Lys
XM_024447676.1:c.1567G>A	XP_024303444.1:p.Glu523Lys
XM_024447677.1:c.1567G>A	XP_024303445.1:p.Glu523Lys
XM_024447678.1:c.2350G>A	XP_024303446.1:p.Glu784Lys
XM_024447680.1:c.2185G>A	XP_024303448.1:p.Glu729Lys