Canonical Allele Identifier: CA375793411

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707523G>C (hg19) ; chr9:g.137813071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813071G>C , CM000671.2:g.137813071G>C	GRCh38
NC_000009.11:g.140707523G>C , CM000671.1:g.140707523G>C	GRCh37
NC_000009.10:g.139827344G>C	NCBI36
NG_011776.1:g.199080G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2933G>C MANE Select	ENSP00000417980.1:p.Cys978Ser
ENST00000636027.1:c.2819G>C	ENSP00000489961.1:p.Cys940Ser
ENST00000637161.1:c.2840G>C	ENSP00000490328.1:p.Cys947Ser
ENST00000637261.1:c.2973G>C	ENSP00000490815.1:n.2973G>C
ENST00000637891.1:c.827G>C	ENSP00000490907.1:p.Cys276Ser
ENST00000460843.5:c.2933G>C	ENSP00000417980.1:p.Cys978Ser
ENST00000462942.3:c.1790G>C	ENSP00000436107.1:p.Cys597Ser
ENST00000486164.5:c.620G>C
ENST00000488242.2:n.459G>C
NM_024757.4:c.2933G>C	NP_079033.4:p.Cys978Ser
XM_005266105.3:c.2924G>C	XP_005266162.1:p.Cys975Ser
XM_005266110.1:c.2840G>C	XP_005266167.1:p.Cys947Ser
XM_006717288.2:c.2915G>C	XP_006717351.1:p.Cys972Ser
XM_011519021.1:c.2942G>C	XP_011517323.1:p.Cys981Ser
XM_011519022.1:c.2939G>C	XP_011517324.1:p.Cys980Ser
XM_011519023.1:c.2921G>C	XP_011517325.1:p.Cys974Ser
XM_011519024.1:c.2864G>C	XP_011517326.1:p.Cys955Ser
XM_011519025.1:c.2840G>C	XP_011517327.1:p.Cys947Ser
XM_011519026.1:c.2798G>C	XP_011517328.1:p.Cys933Ser
XM_011519029.1:c.1364G>C	XP_011517331.1:p.Cys455Ser
XM_011519030.1:c.716G>C	XP_011517332.1:p.Cys239Ser
XM_011519031.1:c.503G>C	XP_011517333.1:p.Cys168Ser
XM_011519032.1:c.503G>C	XP_011517334.1:p.Cys168Ser
XM_011519033.1:c.2777G>C	XP_011517335.1:p.Cys926Ser
NM_001354263.1:c.2912G>C	NP_001341192.1:p.Cys971Ser
XM_005266105.5:c.2924G>C	XP_005266162.1:p.Cys975Ser
XM_011519021.3:c.2942G>C	XP_011517323.1:p.Cys981Ser
XM_011519022.3:c.2939G>C	XP_011517324.1:p.Cys980Ser
XM_011519023.3:c.2921G>C	XP_011517325.1:p.Cys974Ser
XM_011519029.3:c.1364G>C	XP_011517331.1:p.Cys455Ser
XM_011519030.3:c.716G>C	XP_011517332.1:p.Cys239Ser
XM_017015134.1:c.2918G>C	XP_016870623.1:p.Cys973Ser
XM_017015136.2:c.2834G>C	XP_016870625.1:p.Cys945Ser
XM_017015137.1:c.2819G>C	XP_016870626.1:p.Cys940Ser
XM_017015138.1:c.2819G>C	XP_016870627.1:p.Cys940Ser
XM_024447674.1:c.2762G>C	XP_024303442.1:p.Cys921Ser
XM_024447675.1:c.2696G>C	XP_024303443.1:p.Cys899Ser
XM_024447676.1:c.2057G>C	XP_024303444.1:p.Cys686Ser
XM_024447677.1:c.2057G>C	XP_024303445.1:p.Cys686Ser
XM_024447680.1:c.2675G>C	XP_024303448.1:p.Cys892Ser
NM_024757.5:c.2933G>C MANE Select	NP_079033.4:p.Cys978Ser
NM_001354263.2:c.2912G>C	NP_001341192.1:p.Cys971Ser