Canonical Allele Identifier: CA375793343

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707501G>C (hg19) ; chr9:g.137813049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813049G>C , CM000671.2:g.137813049G>C	GRCh38
NC_000009.11:g.140707501G>C , CM000671.1:g.140707501G>C	GRCh37
NC_000009.10:g.139827322G>C	NCBI36
NG_011776.1:g.199058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2911G>C MANE Select	ENSP00000417980.1:p.Glu971Gln
ENST00000636027.1:c.2797G>C	ENSP00000489961.1:p.Glu933Gln
ENST00000637161.1:c.2818G>C	ENSP00000490328.1:p.Glu940Gln
ENST00000637261.1:c.2951G>C	ENSP00000490815.1:n.2951G>C
ENST00000637891.1:c.805G>C	ENSP00000490907.1:p.Glu269Gln
ENST00000460843.5:c.2911G>C	ENSP00000417980.1:p.Glu971Gln
ENST00000462942.3:c.1768G>C	ENSP00000436107.1:p.Glu590Gln
ENST00000486164.5:c.598G>C
ENST00000488242.2:n.437G>C
NM_024757.4:c.2911G>C	NP_079033.4:p.Glu971Gln
XM_005266105.3:c.2902G>C	XP_005266162.1:p.Glu968Gln
XM_005266110.1:c.2818G>C	XP_005266167.1:p.Glu940Gln
XM_006717288.2:c.2893G>C	XP_006717351.1:p.Glu965Gln
XM_011519021.1:c.2920G>C	XP_011517323.1:p.Glu974Gln
XM_011519022.1:c.2917G>C	XP_011517324.1:p.Glu973Gln
XM_011519023.1:c.2899G>C	XP_011517325.1:p.Glu967Gln
XM_011519024.1:c.2842G>C	XP_011517326.1:p.Glu948Gln
XM_011519025.1:c.2818G>C	XP_011517327.1:p.Glu940Gln
XM_011519026.1:c.2776G>C	XP_011517328.1:p.Glu926Gln
XM_011519029.1:c.1342G>C	XP_011517331.1:p.Glu448Gln
XM_011519030.1:c.694G>C	XP_011517332.1:p.Glu232Gln
XM_011519031.1:c.481G>C	XP_011517333.1:p.Glu161Gln
XM_011519032.1:c.481G>C	XP_011517334.1:p.Glu161Gln
XM_011519033.1:c.2755G>C	XP_011517335.1:p.Glu919Gln
NM_001354263.1:c.2890G>C	NP_001341192.1:p.Glu964Gln
XM_005266105.5:c.2902G>C	XP_005266162.1:p.Glu968Gln
XM_011519021.3:c.2920G>C	XP_011517323.1:p.Glu974Gln
XM_011519022.3:c.2917G>C	XP_011517324.1:p.Glu973Gln
XM_011519023.3:c.2899G>C	XP_011517325.1:p.Glu967Gln
XM_011519029.3:c.1342G>C	XP_011517331.1:p.Glu448Gln
XM_011519030.3:c.694G>C	XP_011517332.1:p.Glu232Gln
XM_017015134.1:c.2896G>C	XP_016870623.1:p.Glu966Gln
XM_017015136.2:c.2812G>C	XP_016870625.1:p.Glu938Gln
XM_017015137.1:c.2797G>C	XP_016870626.1:p.Glu933Gln
XM_017015138.1:c.2797G>C	XP_016870627.1:p.Glu933Gln
XM_024447674.1:c.2740G>C	XP_024303442.1:p.Glu914Gln
XM_024447675.1:c.2674G>C	XP_024303443.1:p.Glu892Gln
XM_024447676.1:c.2035G>C	XP_024303444.1:p.Glu679Gln
XM_024447677.1:c.2035G>C	XP_024303445.1:p.Glu679Gln
XM_024447680.1:c.2653G>C	XP_024303448.1:p.Glu885Gln
NM_024757.5:c.2911G>C MANE Select	NP_079033.4:p.Glu971Gln
NM_001354263.2:c.2890G>C	NP_001341192.1:p.Glu964Gln