Canonical Allele Identifier: CA375778555

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137777943G>A , CM000671.2:g.137777943G>A	GRCh38
NC_000009.11:g.140672395G>A , CM000671.1:g.140672395G>A	GRCh37
NC_000009.10:g.139792216G>A	NCBI36
NG_011776.1:g.163952G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2080G>A MANE Select	NP_079033.4:p.Glu694Lys
ENST00000460843.6:c.2080G>A MANE Select	ENSP00000417980.1:p.Glu694Lys
NM_001145527.1:c.2080G>A	NP_001138999.1:p.Glu694Lys
NM_001145527.2:c.2080G>A	NP_001138999.1:p.Glu694Lys
NM_001354259.1:c.1987G>A	NP_001341188.1:p.Glu663Lys
NM_001354259.2:c.1987G>A	NP_001341188.1:p.Glu663Lys
NM_001354263.1:c.2059G>A	NP_001341192.1:p.Glu687Lys
NM_001354263.2:c.2059G>A	NP_001341192.1:p.Glu687Lys
NM_024757.4:c.2080G>A	NP_079033.4:p.Glu694Lys
ENST00000371394.6:c.*1815G>A	ENSP00000485945.1:n.*1815G>A
ENST00000460843.5:c.2080G>A	ENSP00000417980.1:p.Glu694Lys
ENST00000462484.5:c.2080G>A	ENSP00000417328.1:p.Glu694Lys
ENST00000462942.3:c.937G>A	ENSP00000436107.1:p.Glu313Lys
ENST00000626603.1:n.1061-555C>T
ENST00000636027.1:c.1966G>A	ENSP00000489961.1:p.Glu656Lys
ENST00000637161.1:c.1987G>A	ENSP00000490328.1:p.Glu663Lys
ENST00000637261.1:c.2120G>A	ENSP00000490815.1:n.2120G>A
ENST00000638071.1:c.1707G>A
XM_005266105.3:c.2071G>A	XP_005266162.1:p.Glu691Lys
XM_005266105.5:c.2071G>A	XP_005266162.1:p.Glu691Lys
XM_005266110.1:c.1987G>A	XP_005266167.1:p.Glu663Lys
XM_006717288.2:c.2062G>A	XP_006717351.1:p.Glu688Lys
XM_011519021.1:c.2089G>A	XP_011517323.1:p.Glu697Lys
XM_011519021.3:c.2089G>A	XP_011517323.1:p.Glu697Lys
XM_011519022.1:c.2086G>A	XP_011517324.1:p.Glu696Lys
XM_011519022.3:c.2086G>A	XP_011517324.1:p.Glu696Lys
XM_011519023.1:c.2068G>A	XP_011517325.1:p.Glu690Lys
XM_011519023.3:c.2068G>A	XP_011517325.1:p.Glu690Lys
XM_011519024.1:c.2011G>A	XP_011517326.1:p.Glu671Lys
XM_011519025.1:c.1987G>A	XP_011517327.1:p.Glu663Lys
XM_011519026.1:c.1945G>A	XP_011517328.1:p.Glu649Lys
XM_011519027.1:c.2089G>A	XP_011517329.1:p.Glu697Lys
XM_011519028.1:c.2089G>A	XP_011517330.1:p.Glu697Lys
XM_011519029.1:c.511G>A	XP_011517331.1:p.Glu171Lys
XM_011519029.3:c.511G>A	XP_011517331.1:p.Glu171Lys
XM_011519033.1:c.1924G>A	XP_011517335.1:p.Glu642Lys
XM_017015134.1:c.2065G>A	XP_016870623.1:p.Glu689Lys
XM_017015136.2:c.1981G>A	XP_016870625.1:p.Glu661Lys
XM_017015137.1:c.1966G>A	XP_016870626.1:p.Glu656Lys
XM_017015138.1:c.1966G>A	XP_016870627.1:p.Glu656Lys
XM_024447674.1:c.1909G>A	XP_024303442.1:p.Glu637Lys
XM_024447675.1:c.1843G>A	XP_024303443.1:p.Glu615Lys
XM_024447676.1:c.1204G>A	XP_024303444.1:p.Glu402Lys
XM_024447677.1:c.1204G>A	XP_024303445.1:p.Glu402Lys
XM_024447678.1:c.1987G>A	XP_024303446.1:p.Glu663Lys
XM_024447679.1:c.1987G>A	XP_024303447.1:p.Glu663Lys
XM_024447680.1:c.1822G>A	XP_024303448.1:p.Glu608Lys