Canonical Allele Identifier: CA375793293

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707492A>C (hg19) ; chr9:g.137813040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813040A>C , CM000671.2:g.137813040A>C	GRCh38
NC_000009.11:g.140707492A>C , CM000671.1:g.140707492A>C	GRCh37
NC_000009.10:g.139827313A>C	NCBI36
NG_011776.1:g.199049A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2902A>C MANE Select	ENSP00000417980.1:p.Lys968Gln
ENST00000636027.1:c.2788A>C	ENSP00000489961.1:p.Lys930Gln
ENST00000637161.1:c.2809A>C	ENSP00000490328.1:p.Lys937Gln
ENST00000637261.1:c.2942A>C	ENSP00000490815.1:n.2942A>C
ENST00000637891.1:c.796A>C	ENSP00000490907.1:p.Lys266Gln
ENST00000460843.5:c.2902A>C	ENSP00000417980.1:p.Lys968Gln
ENST00000462942.3:c.1759A>C	ENSP00000436107.1:p.Lys587Gln
ENST00000486164.5:c.589A>C
ENST00000488242.2:n.428A>C
NM_024757.4:c.2902A>C	NP_079033.4:p.Lys968Gln
XM_005266105.3:c.2893A>C	XP_005266162.1:p.Lys965Gln
XM_005266110.1:c.2809A>C	XP_005266167.1:p.Lys937Gln
XM_006717288.2:c.2884A>C	XP_006717351.1:p.Lys962Gln
XM_011519021.1:c.2911A>C	XP_011517323.1:p.Lys971Gln
XM_011519022.1:c.2908A>C	XP_011517324.1:p.Lys970Gln
XM_011519023.1:c.2890A>C	XP_011517325.1:p.Lys964Gln
XM_011519024.1:c.2833A>C	XP_011517326.1:p.Lys945Gln
XM_011519025.1:c.2809A>C	XP_011517327.1:p.Lys937Gln
XM_011519026.1:c.2767A>C	XP_011517328.1:p.Lys923Gln
XM_011519029.1:c.1333A>C	XP_011517331.1:p.Lys445Gln
XM_011519030.1:c.685A>C	XP_011517332.1:p.Lys229Gln
XM_011519031.1:c.472A>C	XP_011517333.1:p.Lys158Gln
XM_011519032.1:c.472A>C	XP_011517334.1:p.Lys158Gln
XM_011519033.1:c.2746A>C	XP_011517335.1:p.Lys916Gln
NM_001354263.1:c.2881A>C	NP_001341192.1:p.Lys961Gln
XM_005266105.5:c.2893A>C	XP_005266162.1:p.Lys965Gln
XM_011519021.3:c.2911A>C	XP_011517323.1:p.Lys971Gln
XM_011519022.3:c.2908A>C	XP_011517324.1:p.Lys970Gln
XM_011519023.3:c.2890A>C	XP_011517325.1:p.Lys964Gln
XM_011519029.3:c.1333A>C	XP_011517331.1:p.Lys445Gln
XM_011519030.3:c.685A>C	XP_011517332.1:p.Lys229Gln
XM_017015134.1:c.2887A>C	XP_016870623.1:p.Lys963Gln
XM_017015136.2:c.2803A>C	XP_016870625.1:p.Lys935Gln
XM_017015137.1:c.2788A>C	XP_016870626.1:p.Lys930Gln
XM_017015138.1:c.2788A>C	XP_016870627.1:p.Lys930Gln
XM_024447674.1:c.2731A>C	XP_024303442.1:p.Lys911Gln
XM_024447675.1:c.2665A>C	XP_024303443.1:p.Lys889Gln
XM_024447676.1:c.2026A>C	XP_024303444.1:p.Lys676Gln
XM_024447677.1:c.2026A>C	XP_024303445.1:p.Lys676Gln
XM_024447680.1:c.2644A>C	XP_024303448.1:p.Lys882Gln
NM_024757.5:c.2902A>C MANE Select	NP_079033.4:p.Lys968Gln
NM_001354263.2:c.2881A>C	NP_001341192.1:p.Lys961Gln