Canonical Allele Identifier: CA375766198

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137757953-A-T
• MyVariant Identifiers: chr9:g.140652405A>T (hg19) ; chr9:g.137757953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757953A>T , CM000671.2:g.137757953A>T	GRCh38
NC_000009.11:g.140652405A>T , CM000671.1:g.140652405A>T	GRCh37
NC_000009.10:g.139772226A>T	NCBI36
NG_011776.1:g.143962A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1443A>T MANE Select	ENSP00000417980.1:p.Glu481Asp
ENST00000629335.2:c.1443A>T	ENSP00000490056.1:p.Glu481Asp
ENST00000636027.1:c.1329A>T	ENSP00000489961.1:p.Glu443Asp
ENST00000637161.1:c.1350A>T	ENSP00000490328.1:p.Glu450Asp
ENST00000637261.1:c.1483A>T	ENSP00000490815.1:n.1483A>T
ENST00000637977.1:c.1388A>T
ENST00000638071.1:c.1070A>T
ENST00000640639.1:c.612A>T	ENSP00000491823.1:p.Glu204Asp
ENST00000371394.6:c.*1178A>T	ENSP00000485945.1:n.*1178A>T
ENST00000460843.5:c.1443A>T	ENSP00000417980.1:p.Glu481Asp
ENST00000462484.5:c.1443A>T	ENSP00000417328.1:p.Glu481Asp
ENST00000462942.3:c.300A>T	ENSP00000436107.1:p.Glu100Asp
ENST00000465566.2:c.135A>T	ENSP00000486261.1:p.Glu45Asp
ENST00000629808.2:c.536A>T
NM_001145527.1:c.1443A>T	NP_001138999.1:p.Glu481Asp
NM_024757.4:c.1443A>T	NP_079033.4:p.Glu481Asp
XM_005266105.3:c.1434A>T	XP_005266162.1:p.Glu478Asp
XM_005266110.1:c.1350A>T	XP_005266167.1:p.Glu450Asp
XM_006717288.2:c.1425A>T	XP_006717351.1:p.Glu475Asp
XM_011519021.1:c.1452A>T	XP_011517323.1:p.Glu484Asp
XM_011519022.1:c.1449A>T	XP_011517324.1:p.Glu483Asp
XM_011519023.1:c.1431A>T	XP_011517325.1:p.Glu477Asp
XM_011519024.1:c.1374A>T	XP_011517326.1:p.Glu458Asp
XM_011519025.1:c.1350A>T	XP_011517327.1:p.Glu450Asp
XM_011519026.1:c.1452A>T	XP_011517328.1:p.Glu484Asp
XM_011519027.1:c.1452A>T	XP_011517329.1:p.Glu484Asp
XM_011519028.1:c.1452A>T	XP_011517330.1:p.Glu484Asp
XM_011519033.1:c.1431A>T	XP_011517335.1:p.Glu477Asp
NM_001354259.1:c.1350A>T	NP_001341188.1:p.Glu450Asp
NM_001354263.1:c.1422A>T	NP_001341192.1:p.Glu474Asp
NM_001354611.1:c.1443A>T	NP_001341540.1:p.Glu481Asp
NM_001354612.1:c.1350A>T	NP_001341541.1:p.Glu450Asp
XM_005266105.5:c.1434A>T	XP_005266162.1:p.Glu478Asp
XM_011519021.3:c.1452A>T	XP_011517323.1:p.Glu484Asp
XM_011519022.3:c.1449A>T	XP_011517324.1:p.Glu483Asp
XM_011519023.3:c.1431A>T	XP_011517325.1:p.Glu477Asp
XM_017015134.1:c.1428A>T	XP_016870623.1:p.Glu476Asp
XM_017015136.2:c.1344A>T	XP_016870625.1:p.Glu448Asp
XM_017015137.1:c.1329A>T	XP_016870626.1:p.Glu443Asp
XM_017015138.1:c.1329A>T	XP_016870627.1:p.Glu443Asp
XM_024447674.1:c.1272A>T	XP_024303442.1:p.Glu424Asp
XM_024447675.1:c.1350A>T	XP_024303443.1:p.Glu450Asp
XM_024447676.1:c.567A>T	XP_024303444.1:p.Glu189Asp
XM_024447677.1:c.567A>T	XP_024303445.1:p.Glu189Asp
XM_024447678.1:c.1350A>T	XP_024303446.1:p.Glu450Asp
XM_024447679.1:c.1350A>T	XP_024303447.1:p.Glu450Asp
XM_024447680.1:c.1329A>T	XP_024303448.1:p.Glu443Asp
NM_024757.5:c.1443A>T MANE Select	NP_079033.4:p.Glu481Asp
NM_001145527.2:c.1443A>T	NP_001138999.1:p.Glu481Asp
NM_001354259.2:c.1350A>T	NP_001341188.1:p.Glu450Asp
NM_001354263.2:c.1422A>T	NP_001341192.1:p.Glu474Asp
NM_001354611.2:c.1443A>T	NP_001341540.1:p.Glu481Asp
NM_001354612.2:c.1350A>T	NP_001341541.1:p.Glu450Asp