Canonical Allele Identifier: CA375793283

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813037-T-G
• MyVariant Identifiers: chr9:g.140707489T>G (hg19) ; chr9:g.137813037T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813037T>G , CM000671.2:g.137813037T>G	GRCh38
NC_000009.11:g.140707489T>G , CM000671.1:g.140707489T>G	GRCh37
NC_000009.10:g.139827310T>G	NCBI36
NG_011776.1:g.199046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2899T>G MANE Select	ENSP00000417980.1:p.Leu967Val
ENST00000636027.1:c.2785T>G	ENSP00000489961.1:p.Leu929Val
ENST00000637161.1:c.2806T>G	ENSP00000490328.1:p.Leu936Val
ENST00000637261.1:c.2939T>G	ENSP00000490815.1:n.2939T>G
ENST00000637891.1:c.793T>G	ENSP00000490907.1:p.Leu265Val
ENST00000460843.5:c.2899T>G	ENSP00000417980.1:p.Leu967Val
ENST00000462942.3:c.1756T>G	ENSP00000436107.1:p.Leu586Val
ENST00000486164.5:c.586T>G
ENST00000488242.2:n.425T>G
NM_024757.4:c.2899T>G	NP_079033.4:p.Leu967Val
XM_005266105.3:c.2890T>G	XP_005266162.1:p.Leu964Val
XM_005266110.1:c.2806T>G	XP_005266167.1:p.Leu936Val
XM_006717288.2:c.2881T>G	XP_006717351.1:p.Leu961Val
XM_011519021.1:c.2908T>G	XP_011517323.1:p.Leu970Val
XM_011519022.1:c.2905T>G	XP_011517324.1:p.Leu969Val
XM_011519023.1:c.2887T>G	XP_011517325.1:p.Leu963Val
XM_011519024.1:c.2830T>G	XP_011517326.1:p.Leu944Val
XM_011519025.1:c.2806T>G	XP_011517327.1:p.Leu936Val
XM_011519026.1:c.2764T>G	XP_011517328.1:p.Leu922Val
XM_011519029.1:c.1330T>G	XP_011517331.1:p.Leu444Val
XM_011519030.1:c.682T>G	XP_011517332.1:p.Leu228Val
XM_011519031.1:c.469T>G	XP_011517333.1:p.Leu157Val
XM_011519032.1:c.469T>G	XP_011517334.1:p.Leu157Val
XM_011519033.1:c.2743T>G	XP_011517335.1:p.Leu915Val
NM_001354263.1:c.2878T>G	NP_001341192.1:p.Leu960Val
XM_005266105.5:c.2890T>G	XP_005266162.1:p.Leu964Val
XM_011519021.3:c.2908T>G	XP_011517323.1:p.Leu970Val
XM_011519022.3:c.2905T>G	XP_011517324.1:p.Leu969Val
XM_011519023.3:c.2887T>G	XP_011517325.1:p.Leu963Val
XM_011519029.3:c.1330T>G	XP_011517331.1:p.Leu444Val
XM_011519030.3:c.682T>G	XP_011517332.1:p.Leu228Val
XM_017015134.1:c.2884T>G	XP_016870623.1:p.Leu962Val
XM_017015136.2:c.2800T>G	XP_016870625.1:p.Leu934Val
XM_017015137.1:c.2785T>G	XP_016870626.1:p.Leu929Val
XM_017015138.1:c.2785T>G	XP_016870627.1:p.Leu929Val
XM_024447674.1:c.2728T>G	XP_024303442.1:p.Leu910Val
XM_024447675.1:c.2662T>G	XP_024303443.1:p.Leu888Val
XM_024447676.1:c.2023T>G	XP_024303444.1:p.Leu675Val
XM_024447677.1:c.2023T>G	XP_024303445.1:p.Leu675Val
XM_024447680.1:c.2641T>G	XP_024303448.1:p.Leu881Val
NM_024757.5:c.2899T>G MANE Select	NP_079033.4:p.Leu967Val
NM_001354263.2:c.2878T>G	NP_001341192.1:p.Leu960Val