Canonical Allele Identifier: CA375777061

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 652033
• ClinVar RCV Id: RCV000807512
• dbSNP Id: rs1588650182
• MyVariant Identifiers: chr9:g.140671293G>A (hg19) ; chr9:g.137776841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776841G>A , CM000671.2:g.137776841G>A	GRCh38
NC_000009.11:g.140671293G>A , CM000671.1:g.140671293G>A	GRCh37
NC_000009.10:g.139791114G>A	NCBI36
NG_011776.1:g.162850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2015G>A MANE Select	ENSP00000417980.1:p.Gly672Asp
ENST00000636027.1:c.1901G>A	ENSP00000489961.1:p.Gly634Asp
ENST00000637161.1:c.1922G>A	ENSP00000490328.1:p.Gly641Asp
ENST00000637261.1:c.2055G>A	ENSP00000490815.1:n.2055G>A
ENST00000638071.1:c.1642G>A
ENST00000371394.6:c.*1750G>A	ENSP00000485945.1:n.*1750G>A
ENST00000460843.5:c.2015G>A	ENSP00000417980.1:p.Gly672Asp
ENST00000462484.5:c.2015G>A	ENSP00000417328.1:p.Gly672Asp
ENST00000462942.3:c.872G>A	ENSP00000436107.1:p.Gly291Asp
ENST00000626603.1:n.1608C>T
NM_001145527.1:c.2015G>A	NP_001138999.1:p.Gly672Asp
NM_024757.4:c.2015G>A	NP_079033.4:p.Gly672Asp
XM_005266105.3:c.2006G>A	XP_005266162.1:p.Gly669Asp
XM_005266110.1:c.1922G>A	XP_005266167.1:p.Gly641Asp
XM_006717288.2:c.1997G>A	XP_006717351.1:p.Gly666Asp
XM_011519021.1:c.2024G>A	XP_011517323.1:p.Gly675Asp
XM_011519022.1:c.2021G>A	XP_011517324.1:p.Gly674Asp
XM_011519023.1:c.2003G>A	XP_011517325.1:p.Gly668Asp
XM_011519024.1:c.1946G>A	XP_011517326.1:p.Gly649Asp
XM_011519025.1:c.1922G>A	XP_011517327.1:p.Gly641Asp
XM_011519026.1:c.1880G>A	XP_011517328.1:p.Gly627Asp
XM_011519027.1:c.2024G>A	XP_011517329.1:p.Gly675Asp
XM_011519028.1:c.2024G>A	XP_011517330.1:p.Gly675Asp
XM_011519029.1:c.446G>A	XP_011517331.1:p.Gly149Asp
XM_011519033.1:c.1859G>A	XP_011517335.1:p.Gly620Asp
NM_001354259.1:c.1922G>A	NP_001341188.1:p.Gly641Asp
NM_001354263.1:c.1994G>A	NP_001341192.1:p.Gly665Asp
XM_005266105.5:c.2006G>A	XP_005266162.1:p.Gly669Asp
XM_011519021.3:c.2024G>A	XP_011517323.1:p.Gly675Asp
XM_011519022.3:c.2021G>A	XP_011517324.1:p.Gly674Asp
XM_011519023.3:c.2003G>A	XP_011517325.1:p.Gly668Asp
XM_011519029.3:c.446G>A	XP_011517331.1:p.Gly149Asp
XM_017015134.1:c.2000G>A	XP_016870623.1:p.Gly667Asp
XM_017015136.2:c.1916G>A	XP_016870625.1:p.Gly639Asp
XM_017015137.1:c.1901G>A	XP_016870626.1:p.Gly634Asp
XM_017015138.1:c.1901G>A	XP_016870627.1:p.Gly634Asp
XM_024447674.1:c.1844G>A	XP_024303442.1:p.Gly615Asp
XM_024447675.1:c.1778G>A	XP_024303443.1:p.Gly593Asp
XM_024447676.1:c.1139G>A	XP_024303444.1:p.Gly380Asp
XM_024447677.1:c.1139G>A	XP_024303445.1:p.Gly380Asp
XM_024447678.1:c.1922G>A	XP_024303446.1:p.Gly641Asp
XM_024447679.1:c.1922G>A	XP_024303447.1:p.Gly641Asp
XM_024447680.1:c.1757G>A	XP_024303448.1:p.Gly586Asp
NM_024757.5:c.2015G>A MANE Select	NP_079033.4:p.Gly672Asp
NM_001145527.2:c.2015G>A	NP_001138999.1:p.Gly672Asp
NM_001354259.2:c.1922G>A	NP_001341188.1:p.Gly641Asp
NM_001354263.2:c.1994G>A	NP_001341192.1:p.Gly665Asp