Canonical Allele Identifier: CA201800323

Gene: EHMT1

Linked Data

• dbSNP Id: rs989804913
• MyVariant Identifiers: chr9:g.140712579C>G (hg19) ; chr9:g.137818127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818127C>G , CM000671.2:g.137818127C>G	GRCh38
NC_000009.11:g.140712579C>G , CM000671.1:g.140712579C>G	GRCh37
NC_000009.10:g.139832400C>G	NCBI36
NG_011776.1:g.204136C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3529C>G MANE Select	ENSP00000417980.1:p.Leu1177Val
ENST00000636472.1:n.91C>G
ENST00000636526.1:n.15C>G
ENST00000637161.1:c.3436C>G	ENSP00000490328.1:p.Leu1146Val
ENST00000637261.1:c.4103C>G	ENSP00000490815.1:n.4103C>G
ENST00000637748.1:n.510C>G
ENST00000637891.1:c.1603C>G	ENSP00000490907.1:n.1603C>G
ENST00000460843.5:c.3529C>G	ENSP00000417980.1:p.Leu1177Val
ENST00000462942.3:c.2386C>G	ENSP00000436107.1:p.Leu796Val
ENST00000475564.5:n.1253C>G
ENST00000494249.5:n.882C>G
NM_024757.4:c.3529C>G	NP_079033.4:p.Leu1177Val
XM_005266105.3:c.3520C>G	XP_005266162.1:p.Leu1174Val
XM_005266110.1:c.3436C>G	XP_005266167.1:p.Leu1146Val
XM_006717288.2:c.3511C>G	XP_006717351.1:p.Leu1171Val
XM_011519021.1:c.3538C>G	XP_011517323.1:p.Leu1180Val
XM_011519022.1:c.3535C>G	XP_011517324.1:p.Leu1179Val
XM_011519023.1:c.3517C>G	XP_011517325.1:p.Leu1173Val
XM_011519024.1:c.3460C>G	XP_011517326.1:p.Leu1154Val
XM_011519025.1:c.3436C>G	XP_011517327.1:p.Leu1146Val
XM_011519026.1:c.3394C>G	XP_011517328.1:p.Leu1132Val
XM_011519029.1:c.1960C>G	XP_011517331.1:p.Leu654Val
XM_011519030.1:c.1312C>G	XP_011517332.1:p.Leu438Val
XM_011519031.1:c.1099C>G	XP_011517333.1:p.Leu367Val
XM_011519032.1:c.1099C>G	XP_011517334.1:p.Leu367Val
XM_011519033.1:c.3373C>G	XP_011517335.1:p.Leu1125Val
XR_930459.1:n.5297-3565G>C
NM_001354263.1:c.3508C>G	NP_001341192.1:p.Leu1170Val
XM_005266105.5:c.3520C>G	XP_005266162.1:p.Leu1174Val
XM_011519021.3:c.3538C>G	XP_011517323.1:p.Leu1180Val
XM_011519022.3:c.3535C>G	XP_011517324.1:p.Leu1179Val
XM_011519023.3:c.3517C>G	XP_011517325.1:p.Leu1173Val
XM_011519029.3:c.1960C>G	XP_011517331.1:p.Leu654Val
XM_011519030.3:c.1312C>G	XP_011517332.1:p.Leu438Val
XM_017015134.1:c.3514C>G	XP_016870623.1:p.Leu1172Val
XM_017015136.2:c.3430C>G	XP_016870625.1:p.Leu1144Val
XM_017015137.1:c.3415C>G	XP_016870626.1:p.Leu1139Val
XM_017015138.1:c.3415C>G	XP_016870627.1:p.Leu1139Val
XM_024447674.1:c.3358C>G	XP_024303442.1:p.Leu1120Val
XM_024447675.1:c.3292C>G	XP_024303443.1:p.Leu1098Val
XM_024447676.1:c.2653C>G	XP_024303444.1:p.Leu885Val
XM_024447677.1:c.2653C>G	XP_024303445.1:p.Leu885Val
XM_024447680.1:c.3271C>G	XP_024303448.1:p.Leu1091Val
NM_024757.5:c.3529C>G MANE Select	NP_079033.4:p.Leu1177Val
NM_001354263.2:c.3508C>G	NP_001341192.1:p.Leu1170Val