Canonical Allele Identifier: CA375793872

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813405-G-A
• MyVariant Identifiers: chr9:g.140707857G>A (hg19) ; chr9:g.137813405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813405G>A , CM000671.2:g.137813405G>A	GRCh38
NC_000009.11:g.140707857G>A , CM000671.1:g.140707857G>A	GRCh37
NC_000009.10:g.139827678G>A	NCBI36
NG_011776.1:g.199414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3055G>A MANE Select	ENSP00000417980.1:p.Glu1019Lys
ENST00000636027.1:c.2941G>A	ENSP00000489961.1:p.Glu981Lys
ENST00000637161.1:c.2962G>A	ENSP00000490328.1:p.Glu988Lys
ENST00000637261.1:c.3095G>A	ENSP00000490815.1:n.3095G>A
ENST00000637891.1:c.949G>A	ENSP00000490907.1:p.Glu317Lys
ENST00000460843.5:c.3055G>A	ENSP00000417980.1:p.Glu1019Lys
ENST00000462942.3:c.1912G>A	ENSP00000436107.1:p.Glu638Lys
ENST00000486164.5:c.742G>A
ENST00000488242.2:n.581G>A
NM_024757.4:c.3055G>A	NP_079033.4:p.Glu1019Lys
XM_005266105.3:c.3046G>A	XP_005266162.1:p.Glu1016Lys
XM_005266110.1:c.2962G>A	XP_005266167.1:p.Glu988Lys
XM_006717288.2:c.3037G>A	XP_006717351.1:p.Glu1013Lys
XM_011519021.1:c.3064G>A	XP_011517323.1:p.Glu1022Lys
XM_011519022.1:c.3061G>A	XP_011517324.1:p.Glu1021Lys
XM_011519023.1:c.3043G>A	XP_011517325.1:p.Glu1015Lys
XM_011519024.1:c.2986G>A	XP_011517326.1:p.Glu996Lys
XM_011519025.1:c.2962G>A	XP_011517327.1:p.Glu988Lys
XM_011519026.1:c.2920G>A	XP_011517328.1:p.Glu974Lys
XM_011519029.1:c.1486G>A	XP_011517331.1:p.Glu496Lys
XM_011519030.1:c.838G>A	XP_011517332.1:p.Glu280Lys
XM_011519031.1:c.625G>A	XP_011517333.1:p.Glu209Lys
XM_011519032.1:c.625G>A	XP_011517334.1:p.Glu209Lys
XM_011519033.1:c.2899G>A	XP_011517335.1:p.Glu967Lys
NM_001354263.1:c.3034G>A	NP_001341192.1:p.Glu1012Lys
XM_005266105.5:c.3046G>A	XP_005266162.1:p.Glu1016Lys
XM_011519021.3:c.3064G>A	XP_011517323.1:p.Glu1022Lys
XM_011519022.3:c.3061G>A	XP_011517324.1:p.Glu1021Lys
XM_011519023.3:c.3043G>A	XP_011517325.1:p.Glu1015Lys
XM_011519029.3:c.1486G>A	XP_011517331.1:p.Glu496Lys
XM_011519030.3:c.838G>A	XP_011517332.1:p.Glu280Lys
XM_017015134.1:c.3040G>A	XP_016870623.1:p.Glu1014Lys
XM_017015136.2:c.2956G>A	XP_016870625.1:p.Glu986Lys
XM_017015137.1:c.2941G>A	XP_016870626.1:p.Glu981Lys
XM_017015138.1:c.2941G>A	XP_016870627.1:p.Glu981Lys
XM_024447674.1:c.2884G>A	XP_024303442.1:p.Glu962Lys
XM_024447675.1:c.2818G>A	XP_024303443.1:p.Glu940Lys
XM_024447676.1:c.2179G>A	XP_024303444.1:p.Glu727Lys
XM_024447677.1:c.2179G>A	XP_024303445.1:p.Glu727Lys
XM_024447680.1:c.2797G>A	XP_024303448.1:p.Glu933Lys
NM_024757.5:c.3055G>A MANE Select	NP_079033.4:p.Glu1019Lys
NM_001354263.2:c.3034G>A	NP_001341192.1:p.Glu1012Lys