Canonical Allele Identifier: CA375768989

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657181T>G (hg19) ; chr9:g.137762729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762729T>G , CM000671.2:g.137762729T>G	GRCh38
NC_000009.11:g.140657181T>G , CM000671.1:g.140657181T>G	GRCh37
NC_000009.10:g.139777002T>G	NCBI36
NG_011776.1:g.148738T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1556T>G MANE Select	ENSP00000417980.1:p.Leu519Arg
ENST00000629335.2:c.1556T>G	ENSP00000490056.1:p.Leu519Arg
ENST00000636027.1:c.1442T>G	ENSP00000489961.1:p.Leu481Arg
ENST00000637161.1:c.1463T>G	ENSP00000490328.1:p.Leu488Arg
ENST00000637261.1:c.1596T>G	ENSP00000490815.1:n.1596T>G
ENST00000637977.1:c.1501T>G
ENST00000638071.1:c.1183T>G
ENST00000640639.1:c.725T>G	ENSP00000491823.1:p.Leu242Arg
ENST00000371394.6:c.*1291T>G	ENSP00000485945.1:n.*1291T>G
ENST00000460843.5:c.1556T>G	ENSP00000417980.1:p.Leu519Arg
ENST00000462484.5:c.1556T>G	ENSP00000417328.1:p.Leu519Arg
ENST00000462942.3:c.413T>G	ENSP00000436107.1:p.Leu138Arg
ENST00000465566.2:c.248T>G	ENSP00000486261.1:p.Leu83Arg
ENST00000629808.2:c.649T>G
NM_001145527.1:c.1556T>G	NP_001138999.1:p.Leu519Arg
NM_024757.4:c.1556T>G	NP_079033.4:p.Leu519Arg
XM_005266105.3:c.1547T>G	XP_005266162.1:p.Leu516Arg
XM_005266110.1:c.1463T>G	XP_005266167.1:p.Leu488Arg
XM_006717288.2:c.1538T>G	XP_006717351.1:p.Leu513Arg
XM_011519021.1:c.1565T>G	XP_011517323.1:p.Leu522Arg
XM_011519022.1:c.1562T>G	XP_011517324.1:p.Leu521Arg
XM_011519023.1:c.1544T>G	XP_011517325.1:p.Leu515Arg
XM_011519024.1:c.1487T>G	XP_011517326.1:p.Leu496Arg
XM_011519025.1:c.1463T>G	XP_011517327.1:p.Leu488Arg
XM_011519026.1:c.1565T>G	XP_011517328.1:p.Leu522Arg
XM_011519027.1:c.1565T>G	XP_011517329.1:p.Leu522Arg
XM_011519028.1:c.1565T>G	XP_011517330.1:p.Leu522Arg
XM_011519029.1:c.-14T>G	XP_011517331.1:n.-14T>G
XM_011519033.1:c.1544T>G	XP_011517335.1:p.Leu515Arg
NM_001354259.1:c.1463T>G	NP_001341188.1:p.Leu488Arg
NM_001354263.1:c.1535T>G	NP_001341192.1:p.Leu512Arg
NM_001354611.1:c.1556T>G	NP_001341540.1:p.Leu519Arg
NM_001354612.1:c.1463T>G	NP_001341541.1:p.Leu488Arg
XM_005266105.5:c.1547T>G	XP_005266162.1:p.Leu516Arg
XM_011519021.3:c.1565T>G	XP_011517323.1:p.Leu522Arg
XM_011519022.3:c.1562T>G	XP_011517324.1:p.Leu521Arg
XM_011519023.3:c.1544T>G	XP_011517325.1:p.Leu515Arg
XM_011519029.3:c.-14T>G	XP_011517331.1:n.-14T>G
XM_017015134.1:c.1541T>G	XP_016870623.1:p.Leu514Arg
XM_017015136.2:c.1457T>G	XP_016870625.1:p.Leu486Arg
XM_017015137.1:c.1442T>G	XP_016870626.1:p.Leu481Arg
XM_017015138.1:c.1442T>G	XP_016870627.1:p.Leu481Arg
XM_024447674.1:c.1385T>G	XP_024303442.1:p.Leu462Arg
XM_024447675.1:c.1463T>G	XP_024303443.1:p.Leu488Arg
XM_024447676.1:c.680T>G	XP_024303444.1:p.Leu227Arg
XM_024447677.1:c.680T>G	XP_024303445.1:p.Leu227Arg
XM_024447678.1:c.1463T>G	XP_024303446.1:p.Leu488Arg
XM_024447679.1:c.1463T>G	XP_024303447.1:p.Leu488Arg
XM_024447680.1:c.1442T>G	XP_024303448.1:p.Leu481Arg
NM_024757.5:c.1556T>G MANE Select	NP_079033.4:p.Leu519Arg
NM_001145527.2:c.1556T>G	NP_001138999.1:p.Leu519Arg
NM_001354259.2:c.1463T>G	NP_001341188.1:p.Leu488Arg
NM_001354263.2:c.1535T>G	NP_001341192.1:p.Leu512Arg
NM_001354611.2:c.1556T>G	NP_001341540.1:p.Leu519Arg
NM_001354612.2:c.1463T>G	NP_001341541.1:p.Leu488Arg