Canonical Allele Identifier: CA375775586

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776636C>A , CM000671.2:g.137776636C>A	GRCh38
NC_000009.11:g.140671088C>A , CM000671.1:g.140671088C>A	GRCh37
NC_000009.10:g.139790909C>A	NCBI36
NG_011776.1:g.162645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1810C>A MANE Select	ENSP00000417980.1:p.Gln604Lys
ENST00000636027.1:c.1696C>A	ENSP00000489961.1:p.Gln566Lys
ENST00000637161.1:c.1717C>A	ENSP00000490328.1:p.Gln573Lys
ENST00000637261.1:c.1850C>A	ENSP00000490815.1:n.1850C>A
ENST00000638071.1:c.1437C>A
ENST00000640639.1:c.979C>A	ENSP00000491823.1:p.Gln327Lys
ENST00000371394.6:c.*1545C>A	ENSP00000485945.1:n.*1545C>A
ENST00000460843.5:c.1810C>A	ENSP00000417980.1:p.Gln604Lys
ENST00000462484.5:c.1810C>A	ENSP00000417328.1:p.Gln604Lys
ENST00000462942.3:c.667C>A	ENSP00000436107.1:p.Gln223Lys
ENST00000465566.2:c.358C>A	ENSP00000486261.1:p.Gln120Lys
ENST00000626603.1:n.1813G>T
NM_001145527.1:c.1810C>A	NP_001138999.1:p.Gln604Lys
NM_024757.4:c.1810C>A	NP_079033.4:p.Gln604Lys
XM_005266105.3:c.1801C>A	XP_005266162.1:p.Gln601Lys
XM_005266110.1:c.1717C>A	XP_005266167.1:p.Gln573Lys
XM_006717288.2:c.1792C>A	XP_006717351.1:p.Gln598Lys
XM_011519021.1:c.1819C>A	XP_011517323.1:p.Gln607Lys
XM_011519022.1:c.1816C>A	XP_011517324.1:p.Gln606Lys
XM_011519023.1:c.1798C>A	XP_011517325.1:p.Gln600Lys
XM_011519024.1:c.1741C>A	XP_011517326.1:p.Gln581Lys
XM_011519025.1:c.1717C>A	XP_011517327.1:p.Gln573Lys
XM_011519026.1:c.1675C>A	XP_011517328.1:p.Gln559Lys
XM_011519027.1:c.1819C>A	XP_011517329.1:p.Gln607Lys
XM_011519028.1:c.1819C>A	XP_011517330.1:p.Gln607Lys
XM_011519029.1:c.241C>A	XP_011517331.1:p.Gln81Lys
XM_011519033.1:c.1654C>A	XP_011517335.1:p.Gln552Lys
NM_001354259.1:c.1717C>A	NP_001341188.1:p.Gln573Lys
NM_001354263.1:c.1789C>A	NP_001341192.1:p.Gln597Lys
XM_005266105.5:c.1801C>A	XP_005266162.1:p.Gln601Lys
XM_011519021.3:c.1819C>A	XP_011517323.1:p.Gln607Lys
XM_011519022.3:c.1816C>A	XP_011517324.1:p.Gln606Lys
XM_011519023.3:c.1798C>A	XP_011517325.1:p.Gln600Lys
XM_011519029.3:c.241C>A	XP_011517331.1:p.Gln81Lys
XM_017015134.1:c.1795C>A	XP_016870623.1:p.Gln599Lys
XM_017015136.2:c.1711C>A	XP_016870625.1:p.Gln571Lys
XM_017015137.1:c.1696C>A	XP_016870626.1:p.Gln566Lys
XM_017015138.1:c.1696C>A	XP_016870627.1:p.Gln566Lys
XM_024447674.1:c.1639C>A	XP_024303442.1:p.Gln547Lys
XM_024447675.1:c.1573C>A	XP_024303443.1:p.Gln525Lys
XM_024447676.1:c.934C>A	XP_024303444.1:p.Gln312Lys
XM_024447677.1:c.934C>A	XP_024303445.1:p.Gln312Lys
XM_024447678.1:c.1717C>A	XP_024303446.1:p.Gln573Lys
XM_024447679.1:c.1717C>A	XP_024303447.1:p.Gln573Lys
XM_024447680.1:c.1552C>A	XP_024303448.1:p.Gln518Lys
NM_024757.5:c.1810C>A MANE Select	NP_079033.4:p.Gln604Lys
NM_001145527.2:c.1810C>A	NP_001138999.1:p.Gln604Lys
NM_001354259.2:c.1717C>A	NP_001341188.1:p.Gln573Lys
NM_001354263.2:c.1789C>A	NP_001341192.1:p.Gln597Lys