Canonical Allele Identifier: CA375791451

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137811516-A-T
• MyVariant Identifiers: chr9:g.140705968A>T (hg19) ; chr9:g.137811516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811516A>T , CM000671.2:g.137811516A>T	GRCh38
NC_000009.11:g.140705968A>T , CM000671.1:g.140705968A>T	GRCh37
NC_000009.10:g.139825789A>T	NCBI36
NG_011776.1:g.197525A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.2768A>T MANE Select	ENSP00000417980.1:p.Glu923Val
ENST00000636027.1:c.2654A>T	ENSP00000489961.1:p.Glu885Val
ENST00000637161.1:c.2675A>T	ENSP00000490328.1:p.Glu892Val
ENST00000637261.1:c.2808A>T	ENSP00000490815.1:n.2808A>T
ENST00000637891.1:c.662A>T	ENSP00000490907.1:p.Glu221Val
ENST00000460843.5:c.2768A>T	ENSP00000417980.1:p.Glu923Val
ENST00000462942.3:c.1625A>T	ENSP00000436107.1:p.Glu542Val
ENST00000486164.5:c.455A>T
ENST00000488242.2:n.294A>T
NM_024757.4:c.2768A>T	NP_079033.4:p.Glu923Val
XM_005266105.3:c.2759A>T	XP_005266162.1:p.Glu920Val
XM_005266110.1:c.2675A>T	XP_005266167.1:p.Glu892Val
XM_006717288.2:c.2750A>T	XP_006717351.1:p.Glu917Val
XM_011519021.1:c.2777A>T	XP_011517323.1:p.Glu926Val
XM_011519022.1:c.2774A>T	XP_011517324.1:p.Glu925Val
XM_011519023.1:c.2756A>T	XP_011517325.1:p.Glu919Val
XM_011519024.1:c.2699A>T	XP_011517326.1:p.Glu900Val
XM_011519025.1:c.2675A>T	XP_011517327.1:p.Glu892Val
XM_011519026.1:c.2633A>T	XP_011517328.1:p.Glu878Val
XM_011519029.1:c.1199A>T	XP_011517331.1:p.Glu400Val
XM_011519030.1:c.551A>T	XP_011517332.1:p.Glu184Val
XM_011519031.1:c.338A>T	XP_011517333.1:p.Glu113Val
XM_011519032.1:c.338A>T	XP_011517334.1:p.Glu113Val
XM_011519033.1:c.2612A>T	XP_011517335.1:p.Glu871Val
NM_001354263.1:c.2747A>T	NP_001341192.1:p.Glu916Val
XM_005266105.5:c.2759A>T	XP_005266162.1:p.Glu920Val
XM_011519021.3:c.2777A>T	XP_011517323.1:p.Glu926Val
XM_011519022.3:c.2774A>T	XP_011517324.1:p.Glu925Val
XM_011519023.3:c.2756A>T	XP_011517325.1:p.Glu919Val
XM_011519029.3:c.1199A>T	XP_011517331.1:p.Glu400Val
XM_011519030.3:c.551A>T	XP_011517332.1:p.Glu184Val
XM_017015134.1:c.2753A>T	XP_016870623.1:p.Glu918Val
XM_017015136.2:c.2669A>T	XP_016870625.1:p.Glu890Val
XM_017015137.1:c.2654A>T	XP_016870626.1:p.Glu885Val
XM_017015138.1:c.2654A>T	XP_016870627.1:p.Glu885Val
XM_024447674.1:c.2597A>T	XP_024303442.1:p.Glu866Val
XM_024447675.1:c.2531A>T	XP_024303443.1:p.Glu844Val
XM_024447676.1:c.1892A>T	XP_024303444.1:p.Glu631Val
XM_024447677.1:c.1892A>T	XP_024303445.1:p.Glu631Val
XM_024447680.1:c.2510A>T	XP_024303448.1:p.Glu837Val
NM_024757.5:c.2768A>T MANE Select	NP_079033.4:p.Glu923Val
NM_001354263.2:c.2747A>T	NP_001341192.1:p.Glu916Val