Canonical Allele Identifier: CA375765629
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137757892A>C , CM000671.2:g.137757892A>C GRCh38
NC_000009.11:g.140652344A>C , CM000671.1:g.140652344A>C GRCh37
NC_000009.10:g.139772165A>C NCBI36
NG_011776.1:g.143901A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1382A>C MANE Select ENSP00000417980.1:p.Tyr461Ser
ENST00000629335.2:c.1382A>C ENSP00000490056.1:p.Tyr461Ser
ENST00000636027.1:c.1268A>C ENSP00000489961.1:p.Tyr423Ser
ENST00000637161.1:c.1289A>C ENSP00000490328.1:p.Tyr430Ser
ENST00000637261.1:c.1422A>C ENSP00000490815.1:n.1422A>C
ENST00000637977.1:c.1327A>C
ENST00000638071.1:c.1009A>C
ENST00000640639.1:c.551A>C ENSP00000491823.1:p.Tyr184Ser
ENST00000371394.6:c.*1117A>C ENSP00000485945.1:n.*1117A>C
ENST00000460843.5:c.1382A>C ENSP00000417980.1:p.Tyr461Ser
ENST00000462484.5:c.1382A>C ENSP00000417328.1:p.Tyr461Ser
ENST00000462942.3:c.239A>C ENSP00000436107.1:p.Tyr80Ser
ENST00000465566.2:c.74A>C ENSP00000486261.1:p.Tyr25Ser
ENST00000626066.2:c.1285A>C
ENST00000629808.2:c.475A>C
NM_001145527.1:c.1382A>C NP_001138999.1:p.Tyr461Ser
NM_024757.4:c.1382A>C NP_079033.4:p.Tyr461Ser
XM_005266105.3:c.1373A>C XP_005266162.1:p.Tyr458Ser
XM_005266110.1:c.1289A>C XP_005266167.1:p.Tyr430Ser
XM_006717288.2:c.1364A>C XP_006717351.1:p.Tyr455Ser
XM_011519021.1:c.1391A>C XP_011517323.1:p.Tyr464Ser
XM_011519022.1:c.1388A>C XP_011517324.1:p.Tyr463Ser
XM_011519023.1:c.1370A>C XP_011517325.1:p.Tyr457Ser
XM_011519024.1:c.1313A>C XP_011517326.1:p.Tyr438Ser
XM_011519025.1:c.1289A>C XP_011517327.1:p.Tyr430Ser
XM_011519026.1:c.1391A>C XP_011517328.1:p.Tyr464Ser
XM_011519027.1:c.1391A>C XP_011517329.1:p.Tyr464Ser
XM_011519028.1:c.1391A>C XP_011517330.1:p.Tyr464Ser
XM_011519033.1:c.1370A>C XP_011517335.1:p.Tyr457Ser
NM_001354259.1:c.1289A>C NP_001341188.1:p.Tyr430Ser
NM_001354263.1:c.1361A>C NP_001341192.1:p.Tyr454Ser
NM_001354611.1:c.1382A>C NP_001341540.1:p.Tyr461Ser
NM_001354612.1:c.1289A>C NP_001341541.1:p.Tyr430Ser
XM_005266105.5:c.1373A>C XP_005266162.1:p.Tyr458Ser
XM_011519021.3:c.1391A>C XP_011517323.1:p.Tyr464Ser
XM_011519022.3:c.1388A>C XP_011517324.1:p.Tyr463Ser
XM_011519023.3:c.1370A>C XP_011517325.1:p.Tyr457Ser
XM_017015134.1:c.1367A>C XP_016870623.1:p.Tyr456Ser
XM_017015136.2:c.1283A>C XP_016870625.1:p.Tyr428Ser
XM_017015137.1:c.1268A>C XP_016870626.1:p.Tyr423Ser
XM_017015138.1:c.1268A>C XP_016870627.1:p.Tyr423Ser
XM_024447674.1:c.1211A>C XP_024303442.1:p.Tyr404Ser
XM_024447675.1:c.1289A>C XP_024303443.1:p.Tyr430Ser
XM_024447676.1:c.506A>C XP_024303444.1:p.Tyr169Ser
XM_024447677.1:c.506A>C XP_024303445.1:p.Tyr169Ser
XM_024447678.1:c.1289A>C XP_024303446.1:p.Tyr430Ser
XM_024447679.1:c.1289A>C XP_024303447.1:p.Tyr430Ser
XM_024447680.1:c.1268A>C XP_024303448.1:p.Tyr423Ser
NM_024757.5:c.1382A>C MANE Select NP_079033.4:p.Tyr461Ser
NM_001145527.2:c.1382A>C NP_001138999.1:p.Tyr461Ser
NM_001354259.2:c.1289A>C NP_001341188.1:p.Tyr430Ser
NM_001354263.2:c.1361A>C NP_001341192.1:p.Tyr454Ser
NM_001354611.2:c.1382A>C NP_001341540.1:p.Tyr461Ser
NM_001354612.2:c.1289A>C NP_001341541.1:p.Tyr430Ser