Canonical Allele Identifier: CA375765565

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137757886-A-C
• MyVariant Identifiers: chr9:g.140652338A>C (hg19) ; chr9:g.137757886A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757886A>C , CM000671.2:g.137757886A>C	GRCh38
NC_000009.11:g.140652338A>C , CM000671.1:g.140652338A>C	GRCh37
NC_000009.10:g.139772159A>C	NCBI36
NG_011776.1:g.143895A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1376A>C MANE Select	ENSP00000417980.1:p.Glu459Ala
ENST00000629335.2:c.1376A>C	ENSP00000490056.1:p.Glu459Ala
ENST00000636027.1:c.1262A>C	ENSP00000489961.1:p.Glu421Ala
ENST00000637161.1:c.1283A>C	ENSP00000490328.1:p.Glu428Ala
ENST00000637261.1:c.1416A>C	ENSP00000490815.1:n.1416A>C
ENST00000637977.1:c.1321A>C
ENST00000638071.1:c.1003A>C
ENST00000640639.1:c.545A>C	ENSP00000491823.1:p.Glu182Ala
ENST00000371394.6:c.*1111A>C	ENSP00000485945.1:n.*1111A>C
ENST00000460843.5:c.1376A>C	ENSP00000417980.1:p.Glu459Ala
ENST00000462484.5:c.1376A>C	ENSP00000417328.1:p.Glu459Ala
ENST00000462942.3:c.233A>C	ENSP00000436107.1:p.Glu78Ala
ENST00000465566.2:c.68A>C	ENSP00000486261.1:p.Glu23Ala
ENST00000626066.2:c.1279A>C
ENST00000629808.2:c.469A>C
NM_001145527.1:c.1376A>C	NP_001138999.1:p.Glu459Ala
NM_024757.4:c.1376A>C	NP_079033.4:p.Glu459Ala
XM_005266105.3:c.1367A>C	XP_005266162.1:p.Glu456Ala
XM_005266110.1:c.1283A>C	XP_005266167.1:p.Glu428Ala
XM_006717288.2:c.1358A>C	XP_006717351.1:p.Glu453Ala
XM_011519021.1:c.1385A>C	XP_011517323.1:p.Glu462Ala
XM_011519022.1:c.1382A>C	XP_011517324.1:p.Glu461Ala
XM_011519023.1:c.1364A>C	XP_011517325.1:p.Glu455Ala
XM_011519024.1:c.1307A>C	XP_011517326.1:p.Glu436Ala
XM_011519025.1:c.1283A>C	XP_011517327.1:p.Glu428Ala
XM_011519026.1:c.1385A>C	XP_011517328.1:p.Glu462Ala
XM_011519027.1:c.1385A>C	XP_011517329.1:p.Glu462Ala
XM_011519028.1:c.1385A>C	XP_011517330.1:p.Glu462Ala
XM_011519033.1:c.1364A>C	XP_011517335.1:p.Glu455Ala
NM_001354259.1:c.1283A>C	NP_001341188.1:p.Glu428Ala
NM_001354263.1:c.1355A>C	NP_001341192.1:p.Glu452Ala
NM_001354611.1:c.1376A>C	NP_001341540.1:p.Glu459Ala
NM_001354612.1:c.1283A>C	NP_001341541.1:p.Glu428Ala
XM_005266105.5:c.1367A>C	XP_005266162.1:p.Glu456Ala
XM_011519021.3:c.1385A>C	XP_011517323.1:p.Glu462Ala
XM_011519022.3:c.1382A>C	XP_011517324.1:p.Glu461Ala
XM_011519023.3:c.1364A>C	XP_011517325.1:p.Glu455Ala
XM_017015134.1:c.1361A>C	XP_016870623.1:p.Glu454Ala
XM_017015136.2:c.1277A>C	XP_016870625.1:p.Glu426Ala
XM_017015137.1:c.1262A>C	XP_016870626.1:p.Glu421Ala
XM_017015138.1:c.1262A>C	XP_016870627.1:p.Glu421Ala
XM_024447674.1:c.1205A>C	XP_024303442.1:p.Glu402Ala
XM_024447675.1:c.1283A>C	XP_024303443.1:p.Glu428Ala
XM_024447676.1:c.500A>C	XP_024303444.1:p.Glu167Ala
XM_024447677.1:c.500A>C	XP_024303445.1:p.Glu167Ala
XM_024447678.1:c.1283A>C	XP_024303446.1:p.Glu428Ala
XM_024447679.1:c.1283A>C	XP_024303447.1:p.Glu428Ala
XM_024447680.1:c.1262A>C	XP_024303448.1:p.Glu421Ala
NM_024757.5:c.1376A>C MANE Select	NP_079033.4:p.Glu459Ala
NM_001145527.2:c.1376A>C	NP_001138999.1:p.Glu459Ala
NM_001354259.2:c.1283A>C	NP_001341188.1:p.Glu428Ala
NM_001354263.2:c.1355A>C	NP_001341192.1:p.Glu452Ala
NM_001354611.2:c.1376A>C	NP_001341540.1:p.Glu459Ala
NM_001354612.2:c.1283A>C	NP_001341541.1:p.Glu428Ala