Canonical Allele Identifier: CA375783779

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834906G>A , CM000671.2:g.137834906G>A	GRCh38
NC_000009.11:g.140729358G>A , CM000671.1:g.140729358G>A	GRCh37
NC_000009.10:g.139849179G>A	NCBI36
NG_011776.1:g.220915G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3850G>A MANE Select	NP_079033.4:p.Asp1284Asn
ENST00000460843.6:c.3850G>A MANE Select	ENSP00000417980.1:p.Asp1284Asn
NM_001354263.1:c.3829G>A	NP_001341192.1:p.Asp1277Asn
NM_001354263.2:c.3829G>A	NP_001341192.1:p.Asp1277Asn
NM_024757.4:c.3850G>A	NP_079033.4:p.Asp1284Asn
ENST00000460843.5:c.3850G>A	ENSP00000417980.1:p.Asp1284Asn
ENST00000462942.3:c.2398-11654G>A	ENSP00000436107.1:n.2398-11654G>A
ENST00000472849.1:n.622G>A
ENST00000475564.5:n.1574G>A
ENST00000475704.2:n.580G>A
ENST00000494249.5:n.1203G>A
ENST00000637161.1:c.3757G>A	ENSP00000490328.1:p.Asp1253Asn
ENST00000637748.1:n.831G>A
ENST00000637891.1:c.1924G>A	ENSP00000490907.1:n.1924G>A
XM_005266105.3:c.3841G>A	XP_005266162.1:p.Asp1281Asn
XM_005266105.5:c.3841G>A	XP_005266162.1:p.Asp1281Asn
XM_005266110.1:c.3757G>A	XP_005266167.1:p.Asp1253Asn
XM_006717288.2:c.3832G>A	XP_006717351.1:p.Asp1278Asn
XM_011519021.1:c.3859G>A	XP_011517323.1:p.Asp1287Asn
XM_011519021.3:c.3859G>A	XP_011517323.1:p.Asp1287Asn
XM_011519022.1:c.3856G>A	XP_011517324.1:p.Asp1286Asn
XM_011519022.3:c.3856G>A	XP_011517324.1:p.Asp1286Asn
XM_011519023.1:c.3838G>A	XP_011517325.1:p.Asp1280Asn
XM_011519023.3:c.3838G>A	XP_011517325.1:p.Asp1280Asn
XM_011519024.1:c.3781G>A	XP_011517326.1:p.Asp1261Asn
XM_011519025.1:c.3757G>A	XP_011517327.1:p.Asp1253Asn
XM_011519026.1:c.3715G>A	XP_011517328.1:p.Asp1239Asn
XM_011519029.1:c.2281G>A	XP_011517331.1:p.Asp761Asn
XM_011519029.3:c.2281G>A	XP_011517331.1:p.Asp761Asn
XM_011519030.1:c.1633G>A	XP_011517332.1:p.Asp545Asn
XM_011519030.3:c.1633G>A	XP_011517332.1:p.Asp545Asn
XM_011519031.1:c.1420G>A	XP_011517333.1:p.Asp474Asn
XM_011519032.1:c.1420G>A	XP_011517334.1:p.Asp474Asn
XM_011519033.1:c.3694G>A	XP_011517335.1:p.Asp1232Asn
XM_017015134.1:c.3835G>A	XP_016870623.1:p.Asp1279Asn
XM_017015136.2:c.3751G>A	XP_016870625.1:p.Asp1251Asn
XM_017015137.1:c.3736G>A	XP_016870626.1:p.Asp1246Asn
XM_017015138.1:c.3736G>A	XP_016870627.1:p.Asp1246Asn
XM_024447674.1:c.3679G>A	XP_024303442.1:p.Asp1227Asn
XM_024447675.1:c.3613G>A	XP_024303443.1:p.Asp1205Asn
XM_024447676.1:c.2974G>A	XP_024303444.1:p.Asp992Asn
XM_024447677.1:c.2974G>A	XP_024303445.1:p.Asp992Asn
XM_024447680.1:c.3592G>A	XP_024303448.1:p.Asp1198Asn