Canonical Allele Identifier: CA5374987

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137798870G>A , CM000671.2:g.137798870G>A	GRCh38
NC_000009.11:g.140693322G>A , CM000671.1:g.140693322G>A	GRCh37
NC_000009.10:g.139813143G>A	NCBI36
NG_011776.1:g.184879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2563G>A MANE Select	NP_079033.4:p.Val855Ile
ENST00000460843.6:c.2563G>A MANE Select	ENSP00000417980.1:p.Val855Ile
NM_001354263.1:c.2542G>A	NP_001341192.1:p.Val848Ile
NM_001354263.2:c.2542G>A	NP_001341192.1:p.Val848Ile
NM_024757.4:c.2563G>A	NP_079033.4:p.Val855Ile
ENST00000460843.5:c.2563G>A	ENSP00000417980.1:p.Val855Ile
ENST00000462942.3:c.1420G>A	ENSP00000436107.1:p.Val474Ile
ENST00000482340.5:c.133G>A	ENSP00000486748.1:p.Val45Ile
ENST00000486164.5:c.141G>A
ENST00000493484.5:c.133G>A	ENSP00000486503.1:p.Val45Ile
ENST00000635783.1:n.21G>A
ENST00000636027.1:c.2449G>A	ENSP00000489961.1:p.Val817Ile
ENST00000637161.1:c.2470G>A	ENSP00000490328.1:p.Val824Ile
ENST00000637261.1:c.2603G>A	ENSP00000490815.1:n.2603G>A
ENST00000637891.1:c.457G>A	ENSP00000490907.1:p.Val153Ile
ENST00000637949.1:c.241G>A	ENSP00000489786.1:p.Val81Ile
XM_005266105.3:c.2554G>A	XP_005266162.1:p.Val852Ile
XM_005266105.5:c.2554G>A	XP_005266162.1:p.Val852Ile
XM_005266110.1:c.2470G>A	XP_005266167.1:p.Val824Ile
XM_006717288.2:c.2545G>A	XP_006717351.1:p.Val849Ile
XM_011519021.1:c.2572G>A	XP_011517323.1:p.Val858Ile
XM_011519021.3:c.2572G>A	XP_011517323.1:p.Val858Ile
XM_011519022.1:c.2569G>A	XP_011517324.1:p.Val857Ile
XM_011519022.3:c.2569G>A	XP_011517324.1:p.Val857Ile
XM_011519023.1:c.2551G>A	XP_011517325.1:p.Val851Ile
XM_011519023.3:c.2551G>A	XP_011517325.1:p.Val851Ile
XM_011519024.1:c.2494G>A	XP_011517326.1:p.Val832Ile
XM_011519025.1:c.2470G>A	XP_011517327.1:p.Val824Ile
XM_011519026.1:c.2428G>A	XP_011517328.1:p.Val810Ile
XM_011519027.1:c.2572G>A	XP_011517329.1:p.Val858Ile
XM_011519029.1:c.994G>A	XP_011517331.1:p.Val332Ile
XM_011519029.3:c.994G>A	XP_011517331.1:p.Val332Ile
XM_011519030.1:c.346G>A	XP_011517332.1:p.Val116Ile
XM_011519030.3:c.346G>A	XP_011517332.1:p.Val116Ile
XM_011519031.1:c.133G>A	XP_011517333.1:p.Val45Ile
XM_011519032.1:c.133G>A	XP_011517334.1:p.Val45Ile
XM_011519033.1:c.2407G>A	XP_011517335.1:p.Val803Ile
XM_017015134.1:c.2548G>A	XP_016870623.1:p.Val850Ile
XM_017015136.2:c.2464G>A	XP_016870625.1:p.Val822Ile
XM_017015137.1:c.2449G>A	XP_016870626.1:p.Val817Ile
XM_017015138.1:c.2449G>A	XP_016870627.1:p.Val817Ile
XM_024447674.1:c.2392G>A	XP_024303442.1:p.Val798Ile
XM_024447675.1:c.2326G>A	XP_024303443.1:p.Val776Ile
XM_024447676.1:c.1687G>A	XP_024303444.1:p.Val563Ile
XM_024447677.1:c.1687G>A	XP_024303445.1:p.Val563Ile
XM_024447678.1:c.2470G>A	XP_024303446.1:p.Val824Ile
XM_024447680.1:c.2305G>A	XP_024303448.1:p.Val769Ile