Canonical Allele Identifier: CA375766603
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137758008G>T , CM000671.2:g.137758008G>T GRCh38
NC_000009.11:g.140652460G>T , CM000671.1:g.140652460G>T GRCh37
NC_000009.10:g.139772281G>T NCBI36
NG_011776.1:g.144017G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1498G>T MANE Select ENSP00000417980.1:p.Glu500Ter
ENST00000629335.2:c.1498G>T ENSP00000490056.1:p.Glu500Ter
ENST00000636027.1:c.1384G>T ENSP00000489961.1:p.Glu462Ter
ENST00000637161.1:c.1405G>T ENSP00000490328.1:p.Glu469Ter
ENST00000637261.1:c.1538G>T ENSP00000490815.1:n.1538G>T
ENST00000637977.1:c.1443G>T
ENST00000638071.1:c.1125G>T
ENST00000640639.1:c.667G>T ENSP00000491823.1:p.Glu223Ter
ENST00000371394.6:c.*1233G>T ENSP00000485945.1:n.*1233G>T
ENST00000460843.5:c.1498G>T ENSP00000417980.1:p.Glu500Ter
ENST00000462484.5:c.1498G>T ENSP00000417328.1:p.Glu500Ter
ENST00000462942.3:c.355G>T ENSP00000436107.1:p.Glu119Ter
ENST00000465566.2:c.190G>T ENSP00000486261.1:p.Glu64Ter
ENST00000629808.2:c.591G>T
NM_001145527.1:c.1498G>T NP_001138999.1:p.Glu500Ter
NM_024757.4:c.1498G>T NP_079033.4:p.Glu500Ter
XM_005266105.3:c.1489G>T XP_005266162.1:p.Glu497Ter
XM_005266110.1:c.1405G>T XP_005266167.1:p.Glu469Ter
XM_006717288.2:c.1480G>T XP_006717351.1:p.Glu494Ter
XM_011519021.1:c.1507G>T XP_011517323.1:p.Glu503Ter
XM_011519022.1:c.1504G>T XP_011517324.1:p.Glu502Ter
XM_011519023.1:c.1486G>T XP_011517325.1:p.Glu496Ter
XM_011519024.1:c.1429G>T XP_011517326.1:p.Glu477Ter
XM_011519025.1:c.1405G>T XP_011517327.1:p.Glu469Ter
XM_011519026.1:c.1507G>T XP_011517328.1:p.Glu503Ter
XM_011519027.1:c.1507G>T XP_011517329.1:p.Glu503Ter
XM_011519028.1:c.1507G>T XP_011517330.1:p.Glu503Ter
XM_011519033.1:c.1486G>T XP_011517335.1:p.Glu496Ter
NM_001354259.1:c.1405G>T NP_001341188.1:p.Glu469Ter
NM_001354263.1:c.1477G>T NP_001341192.1:p.Glu493Ter
NM_001354611.1:c.1498G>T NP_001341540.1:p.Glu500Ter
NM_001354612.1:c.1405G>T NP_001341541.1:p.Glu469Ter
XM_005266105.5:c.1489G>T XP_005266162.1:p.Glu497Ter
XM_011519021.3:c.1507G>T XP_011517323.1:p.Glu503Ter
XM_011519022.3:c.1504G>T XP_011517324.1:p.Glu502Ter
XM_011519023.3:c.1486G>T XP_011517325.1:p.Glu496Ter
XM_017015134.1:c.1483G>T XP_016870623.1:p.Glu495Ter
XM_017015136.2:c.1399G>T XP_016870625.1:p.Glu467Ter
XM_017015137.1:c.1384G>T XP_016870626.1:p.Glu462Ter
XM_017015138.1:c.1384G>T XP_016870627.1:p.Glu462Ter
XM_024447674.1:c.1327G>T XP_024303442.1:p.Glu443Ter
XM_024447675.1:c.1405G>T XP_024303443.1:p.Glu469Ter
XM_024447676.1:c.622G>T XP_024303444.1:p.Glu208Ter
XM_024447677.1:c.622G>T XP_024303445.1:p.Glu208Ter
XM_024447678.1:c.1405G>T XP_024303446.1:p.Glu469Ter
XM_024447679.1:c.1405G>T XP_024303447.1:p.Glu469Ter
XM_024447680.1:c.1384G>T XP_024303448.1:p.Glu462Ter
NM_024757.5:c.1498G>T MANE Select NP_079033.4:p.Glu500Ter
NM_001145527.2:c.1498G>T NP_001138999.1:p.Glu500Ter
NM_001354259.2:c.1405G>T NP_001341188.1:p.Glu469Ter
NM_001354263.2:c.1477G>T NP_001341192.1:p.Glu493Ter
NM_001354611.2:c.1498G>T NP_001341540.1:p.Glu500Ter
NM_001354612.2:c.1405G>T NP_001341541.1:p.Glu469Ter