Canonical Allele Identifier: CA375796612

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137816020G>C , CM000671.2:g.137816020G>C	GRCh38
NC_000009.11:g.140710472G>C , CM000671.1:g.140710472G>C	GRCh37
NC_000009.10:g.139830293G>C	NCBI36
NG_011776.1:g.202029G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3332G>C MANE Select	NP_079033.4:p.Cys1111Ser
ENST00000460843.6:c.3332G>C MANE Select	ENSP00000417980.1:p.Cys1111Ser
NM_001354263.1:c.3311G>C	NP_001341192.1:p.Cys1104Ser
NM_001354263.2:c.3311G>C	NP_001341192.1:p.Cys1104Ser
NM_024757.4:c.3332G>C	NP_079033.4:p.Cys1111Ser
ENST00000460843.5:c.3332G>C	ENSP00000417980.1:p.Cys1111Ser
ENST00000462942.3:c.2189G>C	ENSP00000436107.1:p.Cys730Ser
ENST00000494249.5:n.685G>C
ENST00000635741.1:n.21G>C
ENST00000637161.1:c.3239G>C	ENSP00000490328.1:p.Cys1080Ser
ENST00000637261.1:c.3372G>C	ENSP00000490815.1:n.3372G>C
ENST00000637748.1:n.269G>C
ENST00000637891.1:c.1406G>C	ENSP00000490907.1:n.1406G>C
XM_005266105.3:c.3323G>C	XP_005266162.1:p.Cys1108Ser
XM_005266105.5:c.3323G>C	XP_005266162.1:p.Cys1108Ser
XM_005266110.1:c.3239G>C	XP_005266167.1:p.Cys1080Ser
XM_006717288.2:c.3314G>C	XP_006717351.1:p.Cys1105Ser
XM_011519021.1:c.3341G>C	XP_011517323.1:p.Cys1114Ser
XM_011519021.3:c.3341G>C	XP_011517323.1:p.Cys1114Ser
XM_011519022.1:c.3338G>C	XP_011517324.1:p.Cys1113Ser
XM_011519022.3:c.3338G>C	XP_011517324.1:p.Cys1113Ser
XM_011519023.1:c.3320G>C	XP_011517325.1:p.Cys1107Ser
XM_011519023.3:c.3320G>C	XP_011517325.1:p.Cys1107Ser
XM_011519024.1:c.3263G>C	XP_011517326.1:p.Cys1088Ser
XM_011519025.1:c.3239G>C	XP_011517327.1:p.Cys1080Ser
XM_011519026.1:c.3197G>C	XP_011517328.1:p.Cys1066Ser
XM_011519029.1:c.1763G>C	XP_011517331.1:p.Cys588Ser
XM_011519029.3:c.1763G>C	XP_011517331.1:p.Cys588Ser
XM_011519030.1:c.1115G>C	XP_011517332.1:p.Cys372Ser
XM_011519030.3:c.1115G>C	XP_011517332.1:p.Cys372Ser
XM_011519031.1:c.902G>C	XP_011517333.1:p.Cys301Ser
XM_011519032.1:c.902G>C	XP_011517334.1:p.Cys301Ser
XM_011519033.1:c.3176G>C	XP_011517335.1:p.Cys1059Ser
XM_017015134.1:c.3317G>C	XP_016870623.1:p.Cys1106Ser
XM_017015136.2:c.3233G>C	XP_016870625.1:p.Cys1078Ser
XM_017015137.1:c.3218G>C	XP_016870626.1:p.Cys1073Ser
XM_017015138.1:c.3218G>C	XP_016870627.1:p.Cys1073Ser
XM_024447674.1:c.3161G>C	XP_024303442.1:p.Cys1054Ser
XM_024447675.1:c.3095G>C	XP_024303443.1:p.Cys1032Ser
XM_024447676.1:c.2456G>C	XP_024303444.1:p.Cys819Ser
XM_024447677.1:c.2456G>C	XP_024303445.1:p.Cys819Ser
XM_024447680.1:c.3074G>C	XP_024303448.1:p.Cys1025Ser
XR_930459.1:n.5297-1458C>G