Canonical Allele Identifier: CA375777060

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137776840-G-T
• MyVariant Identifiers: chr9:g.140671292G>T (hg19) ; chr9:g.137776840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776840G>T , CM000671.2:g.137776840G>T	GRCh38
NC_000009.11:g.140671292G>T , CM000671.1:g.140671292G>T	GRCh37
NC_000009.10:g.139791113G>T	NCBI36
NG_011776.1:g.162849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2014G>T MANE Select	ENSP00000417980.1:p.Gly672Cys
ENST00000636027.1:c.1900G>T	ENSP00000489961.1:p.Gly634Cys
ENST00000637161.1:c.1921G>T	ENSP00000490328.1:p.Gly641Cys
ENST00000637261.1:c.2054G>T	ENSP00000490815.1:n.2054G>T
ENST00000638071.1:c.1641G>T
ENST00000640639.1:c.1183G>T
ENST00000371394.6:c.*1749G>T	ENSP00000485945.1:n.*1749G>T
ENST00000460843.5:c.2014G>T	ENSP00000417980.1:p.Gly672Cys
ENST00000462484.5:c.2014G>T	ENSP00000417328.1:p.Gly672Cys
ENST00000462942.3:c.871G>T	ENSP00000436107.1:p.Gly291Cys
ENST00000626603.1:n.1609C>A
NM_001145527.1:c.2014G>T	NP_001138999.1:p.Gly672Cys
NM_024757.4:c.2014G>T	NP_079033.4:p.Gly672Cys
XM_005266105.3:c.2005G>T	XP_005266162.1:p.Gly669Cys
XM_005266110.1:c.1921G>T	XP_005266167.1:p.Gly641Cys
XM_006717288.2:c.1996G>T	XP_006717351.1:p.Gly666Cys
XM_011519021.1:c.2023G>T	XP_011517323.1:p.Gly675Cys
XM_011519022.1:c.2020G>T	XP_011517324.1:p.Gly674Cys
XM_011519023.1:c.2002G>T	XP_011517325.1:p.Gly668Cys
XM_011519024.1:c.1945G>T	XP_011517326.1:p.Gly649Cys
XM_011519025.1:c.1921G>T	XP_011517327.1:p.Gly641Cys
XM_011519026.1:c.1879G>T	XP_011517328.1:p.Gly627Cys
XM_011519027.1:c.2023G>T	XP_011517329.1:p.Gly675Cys
XM_011519028.1:c.2023G>T	XP_011517330.1:p.Gly675Cys
XM_011519029.1:c.445G>T	XP_011517331.1:p.Gly149Cys
XM_011519033.1:c.1858G>T	XP_011517335.1:p.Gly620Cys
NM_001354259.1:c.1921G>T	NP_001341188.1:p.Gly641Cys
NM_001354263.1:c.1993G>T	NP_001341192.1:p.Gly665Cys
XM_005266105.5:c.2005G>T	XP_005266162.1:p.Gly669Cys
XM_011519021.3:c.2023G>T	XP_011517323.1:p.Gly675Cys
XM_011519022.3:c.2020G>T	XP_011517324.1:p.Gly674Cys
XM_011519023.3:c.2002G>T	XP_011517325.1:p.Gly668Cys
XM_011519029.3:c.445G>T	XP_011517331.1:p.Gly149Cys
XM_017015134.1:c.1999G>T	XP_016870623.1:p.Gly667Cys
XM_017015136.2:c.1915G>T	XP_016870625.1:p.Gly639Cys
XM_017015137.1:c.1900G>T	XP_016870626.1:p.Gly634Cys
XM_017015138.1:c.1900G>T	XP_016870627.1:p.Gly634Cys
XM_024447674.1:c.1843G>T	XP_024303442.1:p.Gly615Cys
XM_024447675.1:c.1777G>T	XP_024303443.1:p.Gly593Cys
XM_024447676.1:c.1138G>T	XP_024303444.1:p.Gly380Cys
XM_024447677.1:c.1138G>T	XP_024303445.1:p.Gly380Cys
XM_024447678.1:c.1921G>T	XP_024303446.1:p.Gly641Cys
XM_024447679.1:c.1921G>T	XP_024303447.1:p.Gly641Cys
XM_024447680.1:c.1756G>T	XP_024303448.1:p.Gly586Cys
NM_024757.5:c.2014G>T MANE Select	NP_079033.4:p.Gly672Cys
NM_001145527.2:c.2014G>T	NP_001138999.1:p.Gly672Cys
NM_001354259.2:c.1921G>T	NP_001341188.1:p.Gly641Cys
NM_001354263.2:c.1993G>T	NP_001341192.1:p.Gly665Cys