Canonical Allele Identifier: CA375768971

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137762728-C-G
• MyVariant Identifiers: chr9:g.140657180C>G (hg19) ; chr9:g.137762728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762728C>G , CM000671.2:g.137762728C>G	GRCh38
NC_000009.11:g.140657180C>G , CM000671.1:g.140657180C>G	GRCh37
NC_000009.10:g.139777001C>G	NCBI36
NG_011776.1:g.148737C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1555C>G MANE Select	ENSP00000417980.1:p.Leu519Val
ENST00000629335.2:c.1555C>G	ENSP00000490056.1:p.Leu519Val
ENST00000636027.1:c.1441C>G	ENSP00000489961.1:p.Leu481Val
ENST00000637161.1:c.1462C>G	ENSP00000490328.1:p.Leu488Val
ENST00000637261.1:c.1595C>G	ENSP00000490815.1:n.1595C>G
ENST00000637977.1:c.1500C>G
ENST00000638071.1:c.1182C>G
ENST00000640639.1:c.724C>G	ENSP00000491823.1:p.Leu242Val
ENST00000371394.6:c.*1290C>G	ENSP00000485945.1:n.*1290C>G
ENST00000460843.5:c.1555C>G	ENSP00000417980.1:p.Leu519Val
ENST00000462484.5:c.1555C>G	ENSP00000417328.1:p.Leu519Val
ENST00000462942.3:c.412C>G	ENSP00000436107.1:p.Leu138Val
ENST00000465566.2:c.247C>G	ENSP00000486261.1:p.Leu83Val
ENST00000629808.2:c.648C>G
NM_001145527.1:c.1555C>G	NP_001138999.1:p.Leu519Val
NM_024757.4:c.1555C>G	NP_079033.4:p.Leu519Val
XM_005266105.3:c.1546C>G	XP_005266162.1:p.Leu516Val
XM_005266110.1:c.1462C>G	XP_005266167.1:p.Leu488Val
XM_006717288.2:c.1537C>G	XP_006717351.1:p.Leu513Val
XM_011519021.1:c.1564C>G	XP_011517323.1:p.Leu522Val
XM_011519022.1:c.1561C>G	XP_011517324.1:p.Leu521Val
XM_011519023.1:c.1543C>G	XP_011517325.1:p.Leu515Val
XM_011519024.1:c.1486C>G	XP_011517326.1:p.Leu496Val
XM_011519025.1:c.1462C>G	XP_011517327.1:p.Leu488Val
XM_011519026.1:c.1564C>G	XP_011517328.1:p.Leu522Val
XM_011519027.1:c.1564C>G	XP_011517329.1:p.Leu522Val
XM_011519028.1:c.1564C>G	XP_011517330.1:p.Leu522Val
XM_011519029.1:c.-15C>G	XP_011517331.1:n.-15C>G
XM_011519033.1:c.1543C>G	XP_011517335.1:p.Leu515Val
NM_001354259.1:c.1462C>G	NP_001341188.1:p.Leu488Val
NM_001354263.1:c.1534C>G	NP_001341192.1:p.Leu512Val
NM_001354611.1:c.1555C>G	NP_001341540.1:p.Leu519Val
NM_001354612.1:c.1462C>G	NP_001341541.1:p.Leu488Val
XM_005266105.5:c.1546C>G	XP_005266162.1:p.Leu516Val
XM_011519021.3:c.1564C>G	XP_011517323.1:p.Leu522Val
XM_011519022.3:c.1561C>G	XP_011517324.1:p.Leu521Val
XM_011519023.3:c.1543C>G	XP_011517325.1:p.Leu515Val
XM_011519029.3:c.-15C>G	XP_011517331.1:n.-15C>G
XM_017015134.1:c.1540C>G	XP_016870623.1:p.Leu514Val
XM_017015136.2:c.1456C>G	XP_016870625.1:p.Leu486Val
XM_017015137.1:c.1441C>G	XP_016870626.1:p.Leu481Val
XM_017015138.1:c.1441C>G	XP_016870627.1:p.Leu481Val
XM_024447674.1:c.1384C>G	XP_024303442.1:p.Leu462Val
XM_024447675.1:c.1462C>G	XP_024303443.1:p.Leu488Val
XM_024447676.1:c.679C>G	XP_024303444.1:p.Leu227Val
XM_024447677.1:c.679C>G	XP_024303445.1:p.Leu227Val
XM_024447678.1:c.1462C>G	XP_024303446.1:p.Leu488Val
XM_024447679.1:c.1462C>G	XP_024303447.1:p.Leu488Val
XM_024447680.1:c.1441C>G	XP_024303448.1:p.Leu481Val
NM_024757.5:c.1555C>G MANE Select	NP_079033.4:p.Leu519Val
NM_001145527.2:c.1555C>G	NP_001138999.1:p.Leu519Val
NM_001354259.2:c.1462C>G	NP_001341188.1:p.Leu488Val
NM_001354263.2:c.1534C>G	NP_001341192.1:p.Leu512Val
NM_001354611.2:c.1555C>G	NP_001341540.1:p.Leu519Val
NM_001354612.2:c.1462C>G	NP_001341541.1:p.Leu488Val