Canonical Allele Identifier: CA375793441

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707531C>A (hg19) ; chr9:g.137813079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813079C>A , CM000671.2:g.137813079C>A	GRCh38
NC_000009.11:g.140707531C>A , CM000671.1:g.140707531C>A	GRCh37
NC_000009.10:g.139827352C>A	NCBI36
NG_011776.1:g.199088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2941C>A MANE Select	ENSP00000417980.1:p.Leu981Ile
ENST00000636027.1:c.2827C>A	ENSP00000489961.1:p.Leu943Ile
ENST00000637161.1:c.2848C>A	ENSP00000490328.1:p.Leu950Ile
ENST00000637261.1:c.2981C>A	ENSP00000490815.1:n.2981C>A
ENST00000637891.1:c.835C>A	ENSP00000490907.1:p.Leu279Ile
ENST00000460843.5:c.2941C>A	ENSP00000417980.1:p.Leu981Ile
ENST00000462942.3:c.1798C>A	ENSP00000436107.1:p.Leu600Ile
ENST00000486164.5:c.628C>A
ENST00000488242.2:n.467C>A
NM_024757.4:c.2941C>A	NP_079033.4:p.Leu981Ile
XM_005266105.3:c.2932C>A	XP_005266162.1:p.Leu978Ile
XM_005266110.1:c.2848C>A	XP_005266167.1:p.Leu950Ile
XM_006717288.2:c.2923C>A	XP_006717351.1:p.Leu975Ile
XM_011519021.1:c.2950C>A	XP_011517323.1:p.Leu984Ile
XM_011519022.1:c.2947C>A	XP_011517324.1:p.Leu983Ile
XM_011519023.1:c.2929C>A	XP_011517325.1:p.Leu977Ile
XM_011519024.1:c.2872C>A	XP_011517326.1:p.Leu958Ile
XM_011519025.1:c.2848C>A	XP_011517327.1:p.Leu950Ile
XM_011519026.1:c.2806C>A	XP_011517328.1:p.Leu936Ile
XM_011519029.1:c.1372C>A	XP_011517331.1:p.Leu458Ile
XM_011519030.1:c.724C>A	XP_011517332.1:p.Leu242Ile
XM_011519031.1:c.511C>A	XP_011517333.1:p.Leu171Ile
XM_011519032.1:c.511C>A	XP_011517334.1:p.Leu171Ile
XM_011519033.1:c.2785C>A	XP_011517335.1:p.Leu929Ile
NM_001354263.1:c.2920C>A	NP_001341192.1:p.Leu974Ile
XM_005266105.5:c.2932C>A	XP_005266162.1:p.Leu978Ile
XM_011519021.3:c.2950C>A	XP_011517323.1:p.Leu984Ile
XM_011519022.3:c.2947C>A	XP_011517324.1:p.Leu983Ile
XM_011519023.3:c.2929C>A	XP_011517325.1:p.Leu977Ile
XM_011519029.3:c.1372C>A	XP_011517331.1:p.Leu458Ile
XM_011519030.3:c.724C>A	XP_011517332.1:p.Leu242Ile
XM_017015134.1:c.2926C>A	XP_016870623.1:p.Leu976Ile
XM_017015136.2:c.2842C>A	XP_016870625.1:p.Leu948Ile
XM_017015137.1:c.2827C>A	XP_016870626.1:p.Leu943Ile
XM_017015138.1:c.2827C>A	XP_016870627.1:p.Leu943Ile
XM_024447674.1:c.2770C>A	XP_024303442.1:p.Leu924Ile
XM_024447675.1:c.2704C>A	XP_024303443.1:p.Leu902Ile
XM_024447676.1:c.2065C>A	XP_024303444.1:p.Leu689Ile
XM_024447677.1:c.2065C>A	XP_024303445.1:p.Leu689Ile
XM_024447680.1:c.2683C>A	XP_024303448.1:p.Leu895Ile
NM_024757.5:c.2941C>A MANE Select	NP_079033.4:p.Leu981Ile
NM_001354263.2:c.2920C>A	NP_001341192.1:p.Leu974Ile