Canonical Allele Identifier: CA375788715

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1378903
• ClinVar RCV Id: RCV001891858
• dbSNP Id: rs1270766408
• MyVariant Identifiers: chr9:g.140695338G>A (hg19) ; chr9:g.137800886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800886G>A , CM000671.2:g.137800886G>A	GRCh38
NC_000009.11:g.140695338G>A , CM000671.1:g.140695338G>A	GRCh37
NC_000009.10:g.139815159G>A	NCBI36
NG_011776.1:g.186895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2614G>A MANE Select	ENSP00000417980.1:p.Gly872Arg
ENST00000636027.1:c.2500G>A	ENSP00000489961.1:p.Gly834Arg
ENST00000637161.1:c.2521G>A	ENSP00000490328.1:p.Gly841Arg
ENST00000637261.1:c.2654G>A	ENSP00000490815.1:n.2654G>A
ENST00000637891.1:c.508G>A	ENSP00000490907.1:p.Gly170Arg
ENST00000637949.1:c.292G>A	ENSP00000489786.1:p.Gly98Arg
ENST00000460843.5:c.2614G>A	ENSP00000417980.1:p.Gly872Arg
ENST00000462942.3:c.1471G>A	ENSP00000436107.1:p.Gly491Arg
ENST00000482340.5:c.184G>A	ENSP00000486748.1:p.Gly62Arg
ENST00000486164.5:c.192G>A
ENST00000488242.2:n.140G>A
ENST00000493484.5:c.184G>A	ENSP00000486503.1:p.Gly62Arg
NM_024757.4:c.2614G>A	NP_079033.4:p.Gly872Arg
XM_005266105.3:c.2605G>A	XP_005266162.1:p.Gly869Arg
XM_005266110.1:c.2521G>A	XP_005266167.1:p.Gly841Arg
XM_006717288.2:c.2596G>A	XP_006717351.1:p.Gly866Arg
XM_011519021.1:c.2623G>A	XP_011517323.1:p.Gly875Arg
XM_011519022.1:c.2620G>A	XP_011517324.1:p.Gly874Arg
XM_011519023.1:c.2602G>A	XP_011517325.1:p.Gly868Arg
XM_011519024.1:c.2545G>A	XP_011517326.1:p.Gly849Arg
XM_011519025.1:c.2521G>A	XP_011517327.1:p.Gly841Arg
XM_011519026.1:c.2479G>A	XP_011517328.1:p.Gly827Arg
XM_011519027.1:c.2623G>A	XP_011517329.1:p.Gly875Arg
XM_011519029.1:c.1045G>A	XP_011517331.1:p.Gly349Arg
XM_011519030.1:c.397G>A	XP_011517332.1:p.Gly133Arg
XM_011519031.1:c.184G>A	XP_011517333.1:p.Gly62Arg
XM_011519032.1:c.184G>A	XP_011517334.1:p.Gly62Arg
XM_011519033.1:c.2458G>A	XP_011517335.1:p.Gly820Arg
NM_001354263.1:c.2593G>A	NP_001341192.1:p.Gly865Arg
XM_005266105.5:c.2605G>A	XP_005266162.1:p.Gly869Arg
XM_011519021.3:c.2623G>A	XP_011517323.1:p.Gly875Arg
XM_011519022.3:c.2620G>A	XP_011517324.1:p.Gly874Arg
XM_011519023.3:c.2602G>A	XP_011517325.1:p.Gly868Arg
XM_011519029.3:c.1045G>A	XP_011517331.1:p.Gly349Arg
XM_011519030.3:c.397G>A	XP_011517332.1:p.Gly133Arg
XM_017015134.1:c.2599G>A	XP_016870623.1:p.Gly867Arg
XM_017015136.2:c.2515G>A	XP_016870625.1:p.Gly839Arg
XM_017015137.1:c.2500G>A	XP_016870626.1:p.Gly834Arg
XM_017015138.1:c.2500G>A	XP_016870627.1:p.Gly834Arg
XM_024447674.1:c.2443G>A	XP_024303442.1:p.Gly815Arg
XM_024447675.1:c.2377G>A	XP_024303443.1:p.Gly793Arg
XM_024447676.1:c.1738G>A	XP_024303444.1:p.Gly580Arg
XM_024447677.1:c.1738G>A	XP_024303445.1:p.Gly580Arg
XM_024447678.1:c.2521G>A	XP_024303446.1:p.Gly841Arg
XM_024447680.1:c.2356G>A	XP_024303448.1:p.Gly786Arg
NM_024757.5:c.2614G>A MANE Select	NP_079033.4:p.Gly872Arg
NM_001354263.2:c.2593G>A	NP_001341192.1:p.Gly865Arg