Canonical Allele Identifier: CA375766205

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757954G>A , CM000671.2:g.137757954G>A	GRCh38
NC_000009.11:g.140652406G>A , CM000671.1:g.140652406G>A	GRCh37
NC_000009.10:g.139772227G>A	NCBI36
NG_011776.1:g.143963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.1444G>A MANE Select	NP_079033.4:p.Val482Ile
ENST00000460843.6:c.1444G>A MANE Select	ENSP00000417980.1:p.Val482Ile
NM_001145527.1:c.1444G>A	NP_001138999.1:p.Val482Ile
NM_001145527.2:c.1444G>A	NP_001138999.1:p.Val482Ile
NM_001354259.1:c.1351G>A	NP_001341188.1:p.Val451Ile
NM_001354259.2:c.1351G>A	NP_001341188.1:p.Val451Ile
NM_001354263.1:c.1423G>A	NP_001341192.1:p.Val475Ile
NM_001354263.2:c.1423G>A	NP_001341192.1:p.Val475Ile
NM_001354611.1:c.1444G>A	NP_001341540.1:p.Val482Ile
NM_001354611.2:c.1444G>A	NP_001341540.1:p.Val482Ile
NM_001354612.1:c.1351G>A	NP_001341541.1:p.Val451Ile
NM_001354612.2:c.1351G>A	NP_001341541.1:p.Val451Ile
NM_024757.4:c.1444G>A	NP_079033.4:p.Val482Ile
ENST00000371394.6:c.*1179G>A	ENSP00000485945.1:n.*1179G>A
ENST00000460843.5:c.1444G>A	ENSP00000417980.1:p.Val482Ile
ENST00000462484.5:c.1444G>A	ENSP00000417328.1:p.Val482Ile
ENST00000462942.3:c.301G>A	ENSP00000436107.1:p.Val101Ile
ENST00000465566.2:c.136G>A	ENSP00000486261.1:p.Val46Ile
ENST00000629335.2:c.1444G>A	ENSP00000490056.1:p.Val482Ile
ENST00000629808.2:c.537G>A
ENST00000636027.1:c.1330G>A	ENSP00000489961.1:p.Val444Ile
ENST00000637161.1:c.1351G>A	ENSP00000490328.1:p.Val451Ile
ENST00000637261.1:c.1484G>A	ENSP00000490815.1:n.1484G>A
ENST00000637977.1:c.1389G>A
ENST00000638071.1:c.1071G>A
ENST00000640639.1:c.613G>A	ENSP00000491823.1:p.Val205Ile
XM_005266105.3:c.1435G>A	XP_005266162.1:p.Val479Ile
XM_005266105.5:c.1435G>A	XP_005266162.1:p.Val479Ile
XM_005266110.1:c.1351G>A	XP_005266167.1:p.Val451Ile
XM_006717288.2:c.1426G>A	XP_006717351.1:p.Val476Ile
XM_011519021.1:c.1453G>A	XP_011517323.1:p.Val485Ile
XM_011519021.3:c.1453G>A	XP_011517323.1:p.Val485Ile
XM_011519022.1:c.1450G>A	XP_011517324.1:p.Val484Ile
XM_011519022.3:c.1450G>A	XP_011517324.1:p.Val484Ile
XM_011519023.1:c.1432G>A	XP_011517325.1:p.Val478Ile
XM_011519023.3:c.1432G>A	XP_011517325.1:p.Val478Ile
XM_011519024.1:c.1375G>A	XP_011517326.1:p.Val459Ile
XM_011519025.1:c.1351G>A	XP_011517327.1:p.Val451Ile
XM_011519026.1:c.1453G>A	XP_011517328.1:p.Val485Ile
XM_011519027.1:c.1453G>A	XP_011517329.1:p.Val485Ile
XM_011519028.1:c.1453G>A	XP_011517330.1:p.Val485Ile
XM_011519033.1:c.1432G>A	XP_011517335.1:p.Val478Ile
XM_017015134.1:c.1429G>A	XP_016870623.1:p.Val477Ile
XM_017015136.2:c.1345G>A	XP_016870625.1:p.Val449Ile
XM_017015137.1:c.1330G>A	XP_016870626.1:p.Val444Ile
XM_017015138.1:c.1330G>A	XP_016870627.1:p.Val444Ile
XM_024447674.1:c.1273G>A	XP_024303442.1:p.Val425Ile
XM_024447675.1:c.1351G>A	XP_024303443.1:p.Val451Ile
XM_024447676.1:c.568G>A	XP_024303444.1:p.Val190Ile
XM_024447677.1:c.568G>A	XP_024303445.1:p.Val190Ile
XM_024447678.1:c.1351G>A	XP_024303446.1:p.Val451Ile
XM_024447679.1:c.1351G>A	XP_024303447.1:p.Val451Ile
XM_024447680.1:c.1330G>A	XP_024303448.1:p.Val444Ile