Canonical Allele Identifier: CA375778838

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140638378A>C (hg19) ; chr9:g.137743926A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137743926A>C , CM000671.2:g.137743926A>C	GRCh38
NC_000009.11:g.140638378A>C , CM000671.1:g.140638378A>C	GRCh37
NC_000009.10:g.139758199A>C	NCBI36
NG_011776.1:g.129935A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1006A>C MANE Select	ENSP00000417980.1:p.Ser336Arg
ENST00000629335.2:c.1006A>C	ENSP00000490056.1:p.Ser336Arg
ENST00000636027.1:c.892A>C	ENSP00000489961.1:p.Ser298Arg
ENST00000637161.1:c.913A>C	ENSP00000490328.1:p.Ser305Arg
ENST00000637261.1:c.1046A>C	ENSP00000490815.1:n.1046A>C
ENST00000637318.1:c.130A>C	ENSP00000490611.1:p.Ser44Arg
ENST00000637977.1:c.951A>C
ENST00000638071.1:c.711A>C
ENST00000640639.1:c.175A>C	ENSP00000491823.1:p.Ser59Arg
ENST00000371394.6:c.*741A>C	ENSP00000485945.1:n.*741A>C
ENST00000460843.5:c.1006A>C	ENSP00000417980.1:p.Ser336Arg
ENST00000462484.5:c.1006A>C	ENSP00000417328.1:p.Ser336Arg
ENST00000478940.1:n.297A>C
ENST00000495657.5:n.356A>C
ENST00000626066.2:c.909A>C
ENST00000629808.2:c.177A>C
NM_001145527.1:c.1006A>C	NP_001138999.1:p.Ser336Arg
NM_024757.4:c.1006A>C	NP_079033.4:p.Ser336Arg
XM_005266105.3:c.997A>C	XP_005266162.1:p.Ser333Arg
XM_005266110.1:c.913A>C	XP_005266167.1:p.Ser305Arg
XM_006717288.2:c.988A>C	XP_006717351.1:p.Ser330Arg
XM_011519021.1:c.1015A>C	XP_011517323.1:p.Ser339Arg
XM_011519022.1:c.1012A>C	XP_011517324.1:p.Ser338Arg
XM_011519023.1:c.994A>C	XP_011517325.1:p.Ser332Arg
XM_011519024.1:c.1015A>C	XP_011517326.1:p.Ser339Arg
XM_011519025.1:c.913A>C	XP_011517327.1:p.Ser305Arg
XM_011519026.1:c.1015A>C	XP_011517328.1:p.Ser339Arg
XM_011519027.1:c.1015A>C	XP_011517329.1:p.Ser339Arg
XM_011519028.1:c.1015A>C	XP_011517330.1:p.Ser339Arg
XM_011519033.1:c.994A>C	XP_011517335.1:p.Ser332Arg
NM_001354259.1:c.913A>C	NP_001341188.1:p.Ser305Arg
NM_001354263.1:c.985A>C	NP_001341192.1:p.Ser329Arg
NM_001354611.1:c.1006A>C	NP_001341540.1:p.Ser336Arg
NM_001354612.1:c.913A>C	NP_001341541.1:p.Ser305Arg
XM_005266105.5:c.997A>C	XP_005266162.1:p.Ser333Arg
XM_011519021.3:c.1015A>C	XP_011517323.1:p.Ser339Arg
XM_011519022.3:c.1012A>C	XP_011517324.1:p.Ser338Arg
XM_011519023.3:c.994A>C	XP_011517325.1:p.Ser332Arg
XM_017015134.1:c.991A>C	XP_016870623.1:p.Ser331Arg
XM_017015136.2:c.985A>C	XP_016870625.1:p.Ser329Arg
XM_017015137.1:c.892A>C	XP_016870626.1:p.Ser298Arg
XM_017015138.1:c.892A>C	XP_016870627.1:p.Ser298Arg
XM_024447674.1:c.913A>C	XP_024303442.1:p.Ser305Arg
XM_024447675.1:c.913A>C	XP_024303443.1:p.Ser305Arg
XM_024447676.1:c.130A>C	XP_024303444.1:p.Ser44Arg
XM_024447677.1:c.130A>C	XP_024303445.1:p.Ser44Arg
XM_024447678.1:c.913A>C	XP_024303446.1:p.Ser305Arg
XM_024447679.1:c.913A>C	XP_024303447.1:p.Ser305Arg
XM_024447680.1:c.892A>C	XP_024303448.1:p.Ser298Arg
NM_024757.5:c.1006A>C MANE Select	NP_079033.4:p.Ser336Arg
NM_001145527.2:c.1006A>C	NP_001138999.1:p.Ser336Arg
NM_001354259.2:c.913A>C	NP_001341188.1:p.Ser305Arg
NM_001354263.2:c.985A>C	NP_001341192.1:p.Ser329Arg
NM_001354611.2:c.1006A>C	NP_001341540.1:p.Ser336Arg
NM_001354612.2:c.913A>C	NP_001341541.1:p.Ser305Arg