Canonical Allele Identifier: CA5375267

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137816043G>A , CM000671.2:g.137816043G>A	GRCh38
NC_000009.11:g.140710495G>A , CM000671.1:g.140710495G>A	GRCh37
NC_000009.10:g.139830316G>A	NCBI36
NG_011776.1:g.202052G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3355G>A MANE Select	NP_079033.4:p.Val1119Ile
ENST00000460843.6:c.3355G>A MANE Select	ENSP00000417980.1:p.Val1119Ile
NM_001354263.1:c.3334G>A	NP_001341192.1:p.Val1112Ile
NM_001354263.2:c.3334G>A	NP_001341192.1:p.Val1112Ile
NM_024757.4:c.3355G>A	NP_079033.4:p.Val1119Ile
ENST00000460843.5:c.3355G>A	ENSP00000417980.1:p.Val1119Ile
ENST00000462942.3:c.2212G>A	ENSP00000436107.1:p.Val738Ile
ENST00000494249.5:n.708G>A
ENST00000635741.1:n.44G>A
ENST00000637161.1:c.3262G>A	ENSP00000490328.1:p.Val1088Ile
ENST00000637261.1:c.3395G>A	ENSP00000490815.1:n.3395G>A
ENST00000637748.1:n.292G>A
ENST00000637891.1:c.1429G>A	ENSP00000490907.1:n.1429G>A
XM_005266105.3:c.3346G>A	XP_005266162.1:p.Val1116Ile
XM_005266105.5:c.3346G>A	XP_005266162.1:p.Val1116Ile
XM_005266110.1:c.3262G>A	XP_005266167.1:p.Val1088Ile
XM_006717288.2:c.3337G>A	XP_006717351.1:p.Val1113Ile
XM_011519021.1:c.3364G>A	XP_011517323.1:p.Val1122Ile
XM_011519021.3:c.3364G>A	XP_011517323.1:p.Val1122Ile
XM_011519022.1:c.3361G>A	XP_011517324.1:p.Val1121Ile
XM_011519022.3:c.3361G>A	XP_011517324.1:p.Val1121Ile
XM_011519023.1:c.3343G>A	XP_011517325.1:p.Val1115Ile
XM_011519023.3:c.3343G>A	XP_011517325.1:p.Val1115Ile
XM_011519024.1:c.3286G>A	XP_011517326.1:p.Val1096Ile
XM_011519025.1:c.3262G>A	XP_011517327.1:p.Val1088Ile
XM_011519026.1:c.3220G>A	XP_011517328.1:p.Val1074Ile
XM_011519029.1:c.1786G>A	XP_011517331.1:p.Val596Ile
XM_011519029.3:c.1786G>A	XP_011517331.1:p.Val596Ile
XM_011519030.1:c.1138G>A	XP_011517332.1:p.Val380Ile
XM_011519030.3:c.1138G>A	XP_011517332.1:p.Val380Ile
XM_011519031.1:c.925G>A	XP_011517333.1:p.Val309Ile
XM_011519032.1:c.925G>A	XP_011517334.1:p.Val309Ile
XM_011519033.1:c.3199G>A	XP_011517335.1:p.Val1067Ile
XM_017015134.1:c.3340G>A	XP_016870623.1:p.Val1114Ile
XM_017015136.2:c.3256G>A	XP_016870625.1:p.Val1086Ile
XM_017015137.1:c.3241G>A	XP_016870626.1:p.Val1081Ile
XM_017015138.1:c.3241G>A	XP_016870627.1:p.Val1081Ile
XM_024447674.1:c.3184G>A	XP_024303442.1:p.Val1062Ile
XM_024447675.1:c.3118G>A	XP_024303443.1:p.Val1040Ile
XM_024447676.1:c.2479G>A	XP_024303444.1:p.Val827Ile
XM_024447677.1:c.2479G>A	XP_024303445.1:p.Val827Ile
XM_024447680.1:c.3097G>A	XP_024303448.1:p.Val1033Ile
XR_930459.1:n.5297-1481C>T