Canonical Allele Identifier: CA375768575
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137762698C>A , CM000671.2:g.137762698C>A GRCh38
NC_000009.11:g.140657150C>A , CM000671.1:g.140657150C>A GRCh37
NC_000009.10:g.139776971C>A NCBI36
NG_011776.1:g.148707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1525C>A MANE Select ENSP00000417980.1:p.Leu509Met
ENST00000629335.2:c.1525C>A ENSP00000490056.1:p.Leu509Met
ENST00000636027.1:c.1411C>A ENSP00000489961.1:p.Leu471Met
ENST00000637161.1:c.1432C>A ENSP00000490328.1:p.Leu478Met
ENST00000637261.1:c.1565C>A ENSP00000490815.1:n.1565C>A
ENST00000637977.1:c.1470C>A
ENST00000638071.1:c.1152C>A
ENST00000640639.1:c.694C>A ENSP00000491823.1:p.Leu232Met
ENST00000371394.6:c.*1260C>A ENSP00000485945.1:n.*1260C>A
ENST00000460843.5:c.1525C>A ENSP00000417980.1:p.Leu509Met
ENST00000462484.5:c.1525C>A ENSP00000417328.1:p.Leu509Met
ENST00000462942.3:c.382C>A ENSP00000436107.1:p.Leu128Met
ENST00000465566.2:c.217C>A ENSP00000486261.1:p.Leu73Met
ENST00000629808.2:c.618C>A
NM_001145527.1:c.1525C>A NP_001138999.1:p.Leu509Met
NM_024757.4:c.1525C>A NP_079033.4:p.Leu509Met
XM_005266105.3:c.1516C>A XP_005266162.1:p.Leu506Met
XM_005266110.1:c.1432C>A XP_005266167.1:p.Leu478Met
XM_006717288.2:c.1507C>A XP_006717351.1:p.Leu503Met
XM_011519021.1:c.1534C>A XP_011517323.1:p.Leu512Met
XM_011519022.1:c.1531C>A XP_011517324.1:p.Leu511Met
XM_011519023.1:c.1513C>A XP_011517325.1:p.Leu505Met
XM_011519024.1:c.1456C>A XP_011517326.1:p.Leu486Met
XM_011519025.1:c.1432C>A XP_011517327.1:p.Leu478Met
XM_011519026.1:c.1534C>A XP_011517328.1:p.Leu512Met
XM_011519027.1:c.1534C>A XP_011517329.1:p.Leu512Met
XM_011519028.1:c.1534C>A XP_011517330.1:p.Leu512Met
XM_011519029.1:c.-45C>A XP_011517331.1:n.-45C>A
XM_011519033.1:c.1513C>A XP_011517335.1:p.Leu505Met
NM_001354259.1:c.1432C>A NP_001341188.1:p.Leu478Met
NM_001354263.1:c.1504C>A NP_001341192.1:p.Leu502Met
NM_001354611.1:c.1525C>A NP_001341540.1:p.Leu509Met
NM_001354612.1:c.1432C>A NP_001341541.1:p.Leu478Met
XM_005266105.5:c.1516C>A XP_005266162.1:p.Leu506Met
XM_011519021.3:c.1534C>A XP_011517323.1:p.Leu512Met
XM_011519022.3:c.1531C>A XP_011517324.1:p.Leu511Met
XM_011519023.3:c.1513C>A XP_011517325.1:p.Leu505Met
XM_011519029.3:c.-45C>A XP_011517331.1:n.-45C>A
XM_017015134.1:c.1510C>A XP_016870623.1:p.Leu504Met
XM_017015136.2:c.1426C>A XP_016870625.1:p.Leu476Met
XM_017015137.1:c.1411C>A XP_016870626.1:p.Leu471Met
XM_017015138.1:c.1411C>A XP_016870627.1:p.Leu471Met
XM_024447674.1:c.1354C>A XP_024303442.1:p.Leu452Met
XM_024447675.1:c.1432C>A XP_024303443.1:p.Leu478Met
XM_024447676.1:c.649C>A XP_024303444.1:p.Leu217Met
XM_024447677.1:c.649C>A XP_024303445.1:p.Leu217Met
XM_024447678.1:c.1432C>A XP_024303446.1:p.Leu478Met
XM_024447679.1:c.1432C>A XP_024303447.1:p.Leu478Met
XM_024447680.1:c.1411C>A XP_024303448.1:p.Leu471Met
NM_024757.5:c.1525C>A MANE Select NP_079033.4:p.Leu509Met
NM_001145527.2:c.1525C>A NP_001138999.1:p.Leu509Met
NM_001354259.2:c.1432C>A NP_001341188.1:p.Leu478Met
NM_001354263.2:c.1504C>A NP_001341192.1:p.Leu502Met
NM_001354611.2:c.1525C>A NP_001341540.1:p.Leu509Met
NM_001354612.2:c.1432C>A NP_001341541.1:p.Leu478Met