Canonical Allele Identifier: CA375763188

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137754218G>C , CM000671.2:g.137754218G>C	GRCh38
NC_000009.11:g.140648670G>C , CM000671.1:g.140648670G>C	GRCh37
NC_000009.10:g.139768491G>C	NCBI36
NG_011776.1:g.140227G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.1296G>C MANE Select	NP_079033.4:p.Lys432Asn
ENST00000460843.6:c.1296G>C MANE Select	ENSP00000417980.1:p.Lys432Asn
NM_001145527.1:c.1296G>C	NP_001138999.1:p.Lys432Asn
NM_001145527.2:c.1296G>C	NP_001138999.1:p.Lys432Asn
NM_001354259.1:c.1203G>C	NP_001341188.1:p.Lys401Asn
NM_001354259.2:c.1203G>C	NP_001341188.1:p.Lys401Asn
NM_001354263.1:c.1275G>C	NP_001341192.1:p.Lys425Asn
NM_001354263.2:c.1275G>C	NP_001341192.1:p.Lys425Asn
NM_001354611.1:c.1296G>C	NP_001341540.1:p.Lys432Asn
NM_001354611.2:c.1296G>C	NP_001341540.1:p.Lys432Asn
NM_001354612.1:c.1203G>C	NP_001341541.1:p.Lys401Asn
NM_001354612.2:c.1203G>C	NP_001341541.1:p.Lys401Asn
NM_024757.4:c.1296G>C	NP_079033.4:p.Lys432Asn
ENST00000371394.6:c.*1031G>C	ENSP00000485945.1:n.*1031G>C
ENST00000460843.5:c.1296G>C	ENSP00000417980.1:p.Lys432Asn
ENST00000462484.5:c.1296G>C	ENSP00000417328.1:p.Lys432Asn
ENST00000462942.3:c.153G>C	ENSP00000436107.1:p.Lys51Asn
ENST00000495657.5:n.646G>C
ENST00000626066.2:c.1199G>C
ENST00000629335.2:c.1296G>C	ENSP00000490056.1:p.Lys432Asn
ENST00000629808.2:c.389G>C
ENST00000636027.1:c.1182G>C	ENSP00000489961.1:p.Lys394Asn
ENST00000637161.1:c.1203G>C	ENSP00000490328.1:p.Lys401Asn
ENST00000637261.1:c.1336G>C	ENSP00000490815.1:n.1336G>C
ENST00000637977.1:c.1241G>C
ENST00000638071.1:c.923G>C
ENST00000640639.1:c.465G>C	ENSP00000491823.1:p.Lys155Asn
XM_005266105.3:c.1287G>C	XP_005266162.1:p.Lys429Asn
XM_005266105.5:c.1287G>C	XP_005266162.1:p.Lys429Asn
XM_005266110.1:c.1203G>C	XP_005266167.1:p.Lys401Asn
XM_006717288.2:c.1278G>C	XP_006717351.1:p.Lys426Asn
XM_011519021.1:c.1305G>C	XP_011517323.1:p.Lys435Asn
XM_011519021.3:c.1305G>C	XP_011517323.1:p.Lys435Asn
XM_011519022.1:c.1302G>C	XP_011517324.1:p.Lys434Asn
XM_011519022.3:c.1302G>C	XP_011517324.1:p.Lys434Asn
XM_011519023.1:c.1284G>C	XP_011517325.1:p.Lys428Asn
XM_011519023.3:c.1284G>C	XP_011517325.1:p.Lys428Asn
XM_011519024.1:c.1227G>C	XP_011517326.1:p.Lys409Asn
XM_011519025.1:c.1203G>C	XP_011517327.1:p.Lys401Asn
XM_011519026.1:c.1305G>C	XP_011517328.1:p.Lys435Asn
XM_011519027.1:c.1305G>C	XP_011517329.1:p.Lys435Asn
XM_011519028.1:c.1305G>C	XP_011517330.1:p.Lys435Asn
XM_011519033.1:c.1284G>C	XP_011517335.1:p.Lys428Asn
XM_017015134.1:c.1281G>C	XP_016870623.1:p.Lys427Asn
XM_017015136.2:c.1197G>C	XP_016870625.1:p.Lys399Asn
XM_017015137.1:c.1182G>C	XP_016870626.1:p.Lys394Asn
XM_017015138.1:c.1182G>C	XP_016870627.1:p.Lys394Asn
XM_024447674.1:c.1125G>C	XP_024303442.1:p.Lys375Asn
XM_024447675.1:c.1203G>C	XP_024303443.1:p.Lys401Asn
XM_024447676.1:c.420G>C	XP_024303444.1:p.Lys140Asn
XM_024447677.1:c.420G>C	XP_024303445.1:p.Lys140Asn
XM_024447678.1:c.1203G>C	XP_024303446.1:p.Lys401Asn
XM_024447679.1:c.1203G>C	XP_024303447.1:p.Lys401Asn
XM_024447680.1:c.1182G>C	XP_024303448.1:p.Lys394Asn