Canonical Allele Identifier: CA5375061

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811539G>A , CM000671.2:g.137811539G>A	GRCh38
NC_000009.11:g.140705991G>A , CM000671.1:g.140705991G>A	GRCh37
NC_000009.10:g.139825812G>A	NCBI36
NG_011776.1:g.197548G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2791G>A MANE Select	NP_079033.4:p.Asp931Asn
ENST00000460843.6:c.2791G>A MANE Select	ENSP00000417980.1:p.Asp931Asn
NM_001354263.1:c.2770G>A	NP_001341192.1:p.Asp924Asn
NM_001354263.2:c.2770G>A	NP_001341192.1:p.Asp924Asn
NM_024757.4:c.2791G>A	NP_079033.4:p.Asp931Asn
ENST00000460843.5:c.2791G>A	ENSP00000417980.1:p.Asp931Asn
ENST00000462942.3:c.1648G>A	ENSP00000436107.1:p.Asp550Asn
ENST00000486164.5:c.478G>A
ENST00000488242.2:n.317G>A
ENST00000636027.1:c.2677G>A	ENSP00000489961.1:p.Asp893Asn
ENST00000637161.1:c.2698G>A	ENSP00000490328.1:p.Asp900Asn
ENST00000637261.1:c.2831G>A	ENSP00000490815.1:n.2831G>A
ENST00000637891.1:c.685G>A	ENSP00000490907.1:p.Asp229Asn
XM_005266105.3:c.2782G>A	XP_005266162.1:p.Asp928Asn
XM_005266105.5:c.2782G>A	XP_005266162.1:p.Asp928Asn
XM_005266110.1:c.2698G>A	XP_005266167.1:p.Asp900Asn
XM_006717288.2:c.2773G>A	XP_006717351.1:p.Asp925Asn
XM_011519021.1:c.2800G>A	XP_011517323.1:p.Asp934Asn
XM_011519021.3:c.2800G>A	XP_011517323.1:p.Asp934Asn
XM_011519022.1:c.2797G>A	XP_011517324.1:p.Asp933Asn
XM_011519022.3:c.2797G>A	XP_011517324.1:p.Asp933Asn
XM_011519023.1:c.2779G>A	XP_011517325.1:p.Asp927Asn
XM_011519023.3:c.2779G>A	XP_011517325.1:p.Asp927Asn
XM_011519024.1:c.2722G>A	XP_011517326.1:p.Asp908Asn
XM_011519025.1:c.2698G>A	XP_011517327.1:p.Asp900Asn
XM_011519026.1:c.2656G>A	XP_011517328.1:p.Asp886Asn
XM_011519029.1:c.1222G>A	XP_011517331.1:p.Asp408Asn
XM_011519029.3:c.1222G>A	XP_011517331.1:p.Asp408Asn
XM_011519030.1:c.574G>A	XP_011517332.1:p.Asp192Asn
XM_011519030.3:c.574G>A	XP_011517332.1:p.Asp192Asn
XM_011519031.1:c.361G>A	XP_011517333.1:p.Asp121Asn
XM_011519032.1:c.361G>A	XP_011517334.1:p.Asp121Asn
XM_011519033.1:c.2635G>A	XP_011517335.1:p.Asp879Asn
XM_017015134.1:c.2776G>A	XP_016870623.1:p.Asp926Asn
XM_017015136.2:c.2692G>A	XP_016870625.1:p.Asp898Asn
XM_017015137.1:c.2677G>A	XP_016870626.1:p.Asp893Asn
XM_017015138.1:c.2677G>A	XP_016870627.1:p.Asp893Asn
XM_024447674.1:c.2620G>A	XP_024303442.1:p.Asp874Asn
XM_024447675.1:c.2554G>A	XP_024303443.1:p.Asp852Asn
XM_024447676.1:c.1915G>A	XP_024303444.1:p.Asp639Asn
XM_024447677.1:c.1915G>A	XP_024303445.1:p.Asp639Asn
XM_024447680.1:c.2533G>A	XP_024303448.1:p.Asp845Asn