Canonical Allele Identifier: CA375789051

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137800975-C-G
• MyVariant Identifiers: chr9:g.140695427C>G (hg19) ; chr9:g.137800975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800975C>G , CM000671.2:g.137800975C>G	GRCh38
NC_000009.11:g.140695427C>G , CM000671.1:g.140695427C>G	GRCh37
NC_000009.10:g.139815248C>G	NCBI36
NG_011776.1:g.186984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2703C>G MANE Select	ENSP00000417980.1:p.Ile901Met
ENST00000636027.1:c.2589C>G	ENSP00000489961.1:p.Ile863Met
ENST00000637161.1:c.2610C>G	ENSP00000490328.1:p.Ile870Met
ENST00000637261.1:c.2743C>G	ENSP00000490815.1:n.2743C>G
ENST00000637891.1:c.597C>G	ENSP00000490907.1:p.Ile199Met
ENST00000637949.1:c.381C>G	ENSP00000489786.1:p.Ile127Met
ENST00000460843.5:c.2703C>G	ENSP00000417980.1:p.Ile901Met
ENST00000462942.3:c.1560C>G	ENSP00000436107.1:p.Ile520Met
ENST00000482340.5:c.273C>G	ENSP00000486748.1:p.Ile91Met
ENST00000486164.5:c.281C>G
ENST00000488242.2:n.229C>G
ENST00000493484.5:c.273C>G	ENSP00000486503.1:p.Ile91Met
NM_024757.4:c.2703C>G	NP_079033.4:p.Ile901Met
XM_005266105.3:c.2694C>G	XP_005266162.1:p.Ile898Met
XM_005266110.1:c.2610C>G	XP_005266167.1:p.Ile870Met
XM_006717288.2:c.2685C>G	XP_006717351.1:p.Ile895Met
XM_011519021.1:c.2712C>G	XP_011517323.1:p.Ile904Met
XM_011519022.1:c.2709C>G	XP_011517324.1:p.Ile903Met
XM_011519023.1:c.2691C>G	XP_011517325.1:p.Ile897Met
XM_011519024.1:c.2634C>G	XP_011517326.1:p.Ile878Met
XM_011519025.1:c.2610C>G	XP_011517327.1:p.Ile870Met
XM_011519026.1:c.2568C>G	XP_011517328.1:p.Ile856Met
XM_011519027.1:c.2712C>G	XP_011517329.1:p.Ile904Met
XM_011519029.1:c.1134C>G	XP_011517331.1:p.Ile378Met
XM_011519030.1:c.486C>G	XP_011517332.1:p.Ile162Met
XM_011519031.1:c.273C>G	XP_011517333.1:p.Ile91Met
XM_011519032.1:c.273C>G	XP_011517334.1:p.Ile91Met
XM_011519033.1:c.2547C>G	XP_011517335.1:p.Ile849Met
NM_001354263.1:c.2682C>G	NP_001341192.1:p.Ile894Met
XM_005266105.5:c.2694C>G	XP_005266162.1:p.Ile898Met
XM_011519021.3:c.2712C>G	XP_011517323.1:p.Ile904Met
XM_011519022.3:c.2709C>G	XP_011517324.1:p.Ile903Met
XM_011519023.3:c.2691C>G	XP_011517325.1:p.Ile897Met
XM_011519029.3:c.1134C>G	XP_011517331.1:p.Ile378Met
XM_011519030.3:c.486C>G	XP_011517332.1:p.Ile162Met
XM_017015134.1:c.2688C>G	XP_016870623.1:p.Ile896Met
XM_017015136.2:c.2604C>G	XP_016870625.1:p.Ile868Met
XM_017015137.1:c.2589C>G	XP_016870626.1:p.Ile863Met
XM_017015138.1:c.2589C>G	XP_016870627.1:p.Ile863Met
XM_024447674.1:c.2532C>G	XP_024303442.1:p.Ile844Met
XM_024447675.1:c.2466C>G	XP_024303443.1:p.Ile822Met
XM_024447676.1:c.1827C>G	XP_024303444.1:p.Ile609Met
XM_024447677.1:c.1827C>G	XP_024303445.1:p.Ile609Met
XM_024447678.1:c.2610C>G	XP_024303446.1:p.Ile870Met
XM_024447680.1:c.2445C>G	XP_024303448.1:p.Ile815Met
NM_024757.5:c.2703C>G MANE Select	NP_079033.4:p.Ile901Met
NM_001354263.2:c.2682C>G	NP_001341192.1:p.Ile894Met