Canonical Allele Identifier: CA375769016

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657184G>A (hg19) ; chr9:g.137762732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762732G>A , CM000671.2:g.137762732G>A	GRCh38
NC_000009.11:g.140657184G>A , CM000671.1:g.140657184G>A	GRCh37
NC_000009.10:g.139777005G>A	NCBI36
NG_011776.1:g.148741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1559G>A MANE Select	ENSP00000417980.1:p.Cys520Tyr
ENST00000629335.2:c.1559G>A	ENSP00000490056.1:p.Cys520Tyr
ENST00000636027.1:c.1445G>A	ENSP00000489961.1:p.Cys482Tyr
ENST00000637161.1:c.1466G>A	ENSP00000490328.1:p.Cys489Tyr
ENST00000637261.1:c.1599G>A	ENSP00000490815.1:n.1599G>A
ENST00000637977.1:c.1504G>A
ENST00000638071.1:c.1186G>A
ENST00000640639.1:c.728G>A	ENSP00000491823.1:p.Cys243Tyr
ENST00000371394.6:c.*1294G>A	ENSP00000485945.1:n.*1294G>A
ENST00000460843.5:c.1559G>A	ENSP00000417980.1:p.Cys520Tyr
ENST00000462484.5:c.1559G>A	ENSP00000417328.1:p.Cys520Tyr
ENST00000462942.3:c.416G>A	ENSP00000436107.1:p.Cys139Tyr
ENST00000465566.2:c.251G>A	ENSP00000486261.1:p.Cys84Tyr
ENST00000629808.2:c.652G>A
NM_001145527.1:c.1559G>A	NP_001138999.1:p.Cys520Tyr
NM_024757.4:c.1559G>A	NP_079033.4:p.Cys520Tyr
XM_005266105.3:c.1550G>A	XP_005266162.1:p.Cys517Tyr
XM_005266110.1:c.1466G>A	XP_005266167.1:p.Cys489Tyr
XM_006717288.2:c.1541G>A	XP_006717351.1:p.Cys514Tyr
XM_011519021.1:c.1568G>A	XP_011517323.1:p.Cys523Tyr
XM_011519022.1:c.1565G>A	XP_011517324.1:p.Cys522Tyr
XM_011519023.1:c.1547G>A	XP_011517325.1:p.Cys516Tyr
XM_011519024.1:c.1490G>A	XP_011517326.1:p.Cys497Tyr
XM_011519025.1:c.1466G>A	XP_011517327.1:p.Cys489Tyr
XM_011519026.1:c.1568G>A	XP_011517328.1:p.Cys523Tyr
XM_011519027.1:c.1568G>A	XP_011517329.1:p.Cys523Tyr
XM_011519028.1:c.1568G>A	XP_011517330.1:p.Cys523Tyr
XM_011519029.1:c.-11G>A	XP_011517331.1:n.-11G>A
XM_011519033.1:c.1547G>A	XP_011517335.1:p.Cys516Tyr
NM_001354259.1:c.1466G>A	NP_001341188.1:p.Cys489Tyr
NM_001354263.1:c.1538G>A	NP_001341192.1:p.Cys513Tyr
NM_001354611.1:c.1559G>A	NP_001341540.1:p.Cys520Tyr
NM_001354612.1:c.1466G>A	NP_001341541.1:p.Cys489Tyr
XM_005266105.5:c.1550G>A	XP_005266162.1:p.Cys517Tyr
XM_011519021.3:c.1568G>A	XP_011517323.1:p.Cys523Tyr
XM_011519022.3:c.1565G>A	XP_011517324.1:p.Cys522Tyr
XM_011519023.3:c.1547G>A	XP_011517325.1:p.Cys516Tyr
XM_011519029.3:c.-11G>A	XP_011517331.1:n.-11G>A
XM_017015134.1:c.1544G>A	XP_016870623.1:p.Cys515Tyr
XM_017015136.2:c.1460G>A	XP_016870625.1:p.Cys487Tyr
XM_017015137.1:c.1445G>A	XP_016870626.1:p.Cys482Tyr
XM_017015138.1:c.1445G>A	XP_016870627.1:p.Cys482Tyr
XM_024447674.1:c.1388G>A	XP_024303442.1:p.Cys463Tyr
XM_024447675.1:c.1466G>A	XP_024303443.1:p.Cys489Tyr
XM_024447676.1:c.683G>A	XP_024303444.1:p.Cys228Tyr
XM_024447677.1:c.683G>A	XP_024303445.1:p.Cys228Tyr
XM_024447678.1:c.1466G>A	XP_024303446.1:p.Cys489Tyr
XM_024447679.1:c.1466G>A	XP_024303447.1:p.Cys489Tyr
XM_024447680.1:c.1445G>A	XP_024303448.1:p.Cys482Tyr
NM_024757.5:c.1559G>A MANE Select	NP_079033.4:p.Cys520Tyr
NM_001145527.2:c.1559G>A	NP_001138999.1:p.Cys520Tyr
NM_001354259.2:c.1466G>A	NP_001341188.1:p.Cys489Tyr
NM_001354263.2:c.1538G>A	NP_001341192.1:p.Cys513Tyr
NM_001354611.2:c.1559G>A	NP_001341540.1:p.Cys520Tyr
NM_001354612.2:c.1466G>A	NP_001341541.1:p.Cys489Tyr