Canonical Allele Identifier: CA375793461

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707537T>C (hg19) ; chr9:g.137813085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813085T>C , CM000671.2:g.137813085T>C	GRCh38
NC_000009.11:g.140707537T>C , CM000671.1:g.140707537T>C	GRCh37
NC_000009.10:g.139827358T>C	NCBI36
NG_011776.1:g.199094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2947T>C MANE Select	ENSP00000417980.1:p.Ser983Pro
ENST00000636027.1:c.2833T>C	ENSP00000489961.1:p.Ser945Pro
ENST00000637161.1:c.2854T>C	ENSP00000490328.1:p.Ser952Pro
ENST00000637261.1:c.2987T>C	ENSP00000490815.1:n.2987T>C
ENST00000637891.1:c.841T>C	ENSP00000490907.1:p.Ser281Pro
ENST00000460843.5:c.2947T>C	ENSP00000417980.1:p.Ser983Pro
ENST00000462942.3:c.1804T>C	ENSP00000436107.1:p.Ser602Pro
ENST00000486164.5:c.634T>C
ENST00000488242.2:n.473T>C
NM_024757.4:c.2947T>C	NP_079033.4:p.Ser983Pro
XM_005266105.3:c.2938T>C	XP_005266162.1:p.Ser980Pro
XM_005266110.1:c.2854T>C	XP_005266167.1:p.Ser952Pro
XM_006717288.2:c.2929T>C	XP_006717351.1:p.Ser977Pro
XM_011519021.1:c.2956T>C	XP_011517323.1:p.Ser986Pro
XM_011519022.1:c.2953T>C	XP_011517324.1:p.Ser985Pro
XM_011519023.1:c.2935T>C	XP_011517325.1:p.Ser979Pro
XM_011519024.1:c.2878T>C	XP_011517326.1:p.Ser960Pro
XM_011519025.1:c.2854T>C	XP_011517327.1:p.Ser952Pro
XM_011519026.1:c.2812T>C	XP_011517328.1:p.Ser938Pro
XM_011519029.1:c.1378T>C	XP_011517331.1:p.Ser460Pro
XM_011519030.1:c.730T>C	XP_011517332.1:p.Ser244Pro
XM_011519031.1:c.517T>C	XP_011517333.1:p.Ser173Pro
XM_011519032.1:c.517T>C	XP_011517334.1:p.Ser173Pro
XM_011519033.1:c.2791T>C	XP_011517335.1:p.Ser931Pro
NM_001354263.1:c.2926T>C	NP_001341192.1:p.Ser976Pro
XM_005266105.5:c.2938T>C	XP_005266162.1:p.Ser980Pro
XM_011519021.3:c.2956T>C	XP_011517323.1:p.Ser986Pro
XM_011519022.3:c.2953T>C	XP_011517324.1:p.Ser985Pro
XM_011519023.3:c.2935T>C	XP_011517325.1:p.Ser979Pro
XM_011519029.3:c.1378T>C	XP_011517331.1:p.Ser460Pro
XM_011519030.3:c.730T>C	XP_011517332.1:p.Ser244Pro
XM_017015134.1:c.2932T>C	XP_016870623.1:p.Ser978Pro
XM_017015136.2:c.2848T>C	XP_016870625.1:p.Ser950Pro
XM_017015137.1:c.2833T>C	XP_016870626.1:p.Ser945Pro
XM_017015138.1:c.2833T>C	XP_016870627.1:p.Ser945Pro
XM_024447674.1:c.2776T>C	XP_024303442.1:p.Ser926Pro
XM_024447675.1:c.2710T>C	XP_024303443.1:p.Ser904Pro
XM_024447676.1:c.2071T>C	XP_024303444.1:p.Ser691Pro
XM_024447677.1:c.2071T>C	XP_024303445.1:p.Ser691Pro
XM_024447680.1:c.2689T>C	XP_024303448.1:p.Ser897Pro
NM_024757.5:c.2947T>C MANE Select	NP_079033.4:p.Ser983Pro
NM_001354263.2:c.2926T>C	NP_001341192.1:p.Ser976Pro