Canonical Allele Identifier: CA467873882

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657182C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762730C>A , CM000671.2:g.137762730C>A	GRCh38
NC_000009.11:g.140657182C>A , CM000671.1:g.140657182C>A	GRCh37
NC_000009.10:g.139777003C>A	NCBI36
NG_011776.1:g.148739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1557C>A MANE Select	ENSP00000417980.1:p.Leu519=
ENST00000629335.2:c.1557C>A	ENSP00000490056.1:p.Leu519=
ENST00000636027.1:c.1443C>A	ENSP00000489961.1:p.Leu481=
ENST00000637161.1:c.1464C>A	ENSP00000490328.1:p.Leu488=
ENST00000637261.1:c.1597C>A	ENSP00000490815.1:n.1597C>A
ENST00000637977.1:c.1502C>A
ENST00000638071.1:c.1184C>A
ENST00000640639.1:c.726C>A	ENSP00000491823.1:p.Leu242=
ENST00000371394.6:c.*1292C>A	ENSP00000485945.1:n.*1292C>A
ENST00000460843.5:c.1557C>A	ENSP00000417980.1:p.Leu519=
ENST00000462484.5:c.1557C>A	ENSP00000417328.1:p.Leu519=
ENST00000462942.3:c.414C>A	ENSP00000436107.1:p.Leu138=
ENST00000465566.2:c.249C>A	ENSP00000486261.1:p.Leu83=
ENST00000629808.2:c.650C>A
NM_001145527.1:c.1557C>A	NP_001138999.1:p.Leu519=
NM_024757.4:c.1557C>A	NP_079033.4:p.Leu519=
XM_005266105.3:c.1548C>A	XP_005266162.1:p.Leu516=
XM_005266110.1:c.1464C>A	XP_005266167.1:p.Leu488=
XM_006717288.2:c.1539C>A	XP_006717351.1:p.Leu513=
XM_011519021.1:c.1566C>A	XP_011517323.1:p.Leu522=
XM_011519022.1:c.1563C>A	XP_011517324.1:p.Leu521=
XM_011519023.1:c.1545C>A	XP_011517325.1:p.Leu515=
XM_011519024.1:c.1488C>A	XP_011517326.1:p.Leu496=
XM_011519025.1:c.1464C>A	XP_011517327.1:p.Leu488=
XM_011519026.1:c.1566C>A	XP_011517328.1:p.Leu522=
XM_011519027.1:c.1566C>A	XP_011517329.1:p.Leu522=
XM_011519028.1:c.1566C>A	XP_011517330.1:p.Leu522=
XM_011519029.1:c.-13C>A	XP_011517331.1:n.-13C>A
XM_011519033.1:c.1545C>A	XP_011517335.1:p.Leu515=
NM_001354259.1:c.1464C>A	NP_001341188.1:p.Leu488=
NM_001354263.1:c.1536C>A	NP_001341192.1:p.Leu512=
NM_001354611.1:c.1557C>A	NP_001341540.1:p.Leu519=
NM_001354612.1:c.1464C>A	NP_001341541.1:p.Leu488=
XM_005266105.5:c.1548C>A	XP_005266162.1:p.Leu516=
XM_011519021.3:c.1566C>A	XP_011517323.1:p.Leu522=
XM_011519022.3:c.1563C>A	XP_011517324.1:p.Leu521=
XM_011519023.3:c.1545C>A	XP_011517325.1:p.Leu515=
XM_011519029.3:c.-13C>A	XP_011517331.1:n.-13C>A
XM_017015134.1:c.1542C>A	XP_016870623.1:p.Leu514=
XM_017015136.2:c.1458C>A	XP_016870625.1:p.Leu486=
XM_017015137.1:c.1443C>A	XP_016870626.1:p.Leu481=
XM_017015138.1:c.1443C>A	XP_016870627.1:p.Leu481=
XM_024447674.1:c.1386C>A	XP_024303442.1:p.Leu462=
XM_024447675.1:c.1464C>A	XP_024303443.1:p.Leu488=
XM_024447676.1:c.681C>A	XP_024303444.1:p.Leu227=
XM_024447677.1:c.681C>A	XP_024303445.1:p.Leu227=
XM_024447678.1:c.1464C>A	XP_024303446.1:p.Leu488=
XM_024447679.1:c.1464C>A	XP_024303447.1:p.Leu488=
XM_024447680.1:c.1443C>A	XP_024303448.1:p.Leu481=
NM_024757.5:c.1557C>A MANE Select	NP_079033.4:p.Leu519=
NM_001145527.2:c.1557C>A	NP_001138999.1:p.Leu519=
NM_001354259.2:c.1464C>A	NP_001341188.1:p.Leu488=
NM_001354263.2:c.1536C>A	NP_001341192.1:p.Leu512=
NM_001354611.2:c.1557C>A	NP_001341540.1:p.Leu519=
NM_001354612.2:c.1464C>A	NP_001341541.1:p.Leu488=