Canonical Allele Identifier: CA375766374
Community Standard Title: NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137757978C>T , CM000671.2:g.137757978C>T GRCh38
NC_000009.11:g.140652430C>T , CM000671.1:g.140652430C>T GRCh37
NC_000009.10:g.139772251C>T NCBI36
NG_011776.1:g.143987C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.1468C>T MANE Select NP_079033.4:p.Arg490Ter
ENST00000460843.6:c.1468C>T MANE Select ENSP00000417980.1:p.Arg490Ter
NM_001145527.1:c.1468C>T NP_001138999.1:p.Arg490Ter
NM_001145527.2:c.1468C>T NP_001138999.1:p.Arg490Ter
NM_001354259.1:c.1375C>T NP_001341188.1:p.Arg459Ter
NM_001354259.2:c.1375C>T NP_001341188.1:p.Arg459Ter
NM_001354263.1:c.1447C>T NP_001341192.1:p.Arg483Ter
NM_001354263.2:c.1447C>T NP_001341192.1:p.Arg483Ter
NM_001354611.1:c.1468C>T NP_001341540.1:p.Arg490Ter
NM_001354611.2:c.1468C>T NP_001341540.1:p.Arg490Ter
NM_001354612.1:c.1375C>T NP_001341541.1:p.Arg459Ter
NM_001354612.2:c.1375C>T NP_001341541.1:p.Arg459Ter
NM_024757.4:c.1468C>T NP_079033.4:p.Arg490Ter
ENST00000371394.6:c.*1203C>T ENSP00000485945.1:n.*1203C>T
ENST00000460843.5:c.1468C>T ENSP00000417980.1:p.Arg490Ter
ENST00000462484.5:c.1468C>T ENSP00000417328.1:p.Arg490Ter
ENST00000462942.3:c.325C>T ENSP00000436107.1:p.Arg109Ter
ENST00000465566.2:c.160C>T ENSP00000486261.1:p.Arg54Ter
ENST00000629335.2:c.1468C>T ENSP00000490056.1:p.Arg490Ter
ENST00000629808.2:c.561C>T
ENST00000636027.1:c.1354C>T ENSP00000489961.1:p.Arg452Ter
ENST00000637161.1:c.1375C>T ENSP00000490328.1:p.Arg459Ter
ENST00000637261.1:c.1508C>T ENSP00000490815.1:n.1508C>T
ENST00000637977.1:c.1413C>T
ENST00000638071.1:c.1095C>T
ENST00000640639.1:c.637C>T ENSP00000491823.1:p.Arg213Ter
XM_005266105.3:c.1459C>T XP_005266162.1:p.Arg487Ter
XM_005266105.5:c.1459C>T XP_005266162.1:p.Arg487Ter
XM_005266110.1:c.1375C>T XP_005266167.1:p.Arg459Ter
XM_006717288.2:c.1450C>T XP_006717351.1:p.Arg484Ter
XM_011519021.1:c.1477C>T XP_011517323.1:p.Arg493Ter
XM_011519021.3:c.1477C>T XP_011517323.1:p.Arg493Ter
XM_011519022.1:c.1474C>T XP_011517324.1:p.Arg492Ter
XM_011519022.3:c.1474C>T XP_011517324.1:p.Arg492Ter
XM_011519023.1:c.1456C>T XP_011517325.1:p.Arg486Ter
XM_011519023.3:c.1456C>T XP_011517325.1:p.Arg486Ter
XM_011519024.1:c.1399C>T XP_011517326.1:p.Arg467Ter
XM_011519025.1:c.1375C>T XP_011517327.1:p.Arg459Ter
XM_011519026.1:c.1477C>T XP_011517328.1:p.Arg493Ter
XM_011519027.1:c.1477C>T XP_011517329.1:p.Arg493Ter
XM_011519028.1:c.1477C>T XP_011517330.1:p.Arg493Ter
XM_011519033.1:c.1456C>T XP_011517335.1:p.Arg486Ter
XM_017015134.1:c.1453C>T XP_016870623.1:p.Arg485Ter
XM_017015136.2:c.1369C>T XP_016870625.1:p.Arg457Ter
XM_017015137.1:c.1354C>T XP_016870626.1:p.Arg452Ter
XM_017015138.1:c.1354C>T XP_016870627.1:p.Arg452Ter
XM_024447674.1:c.1297C>T XP_024303442.1:p.Arg433Ter
XM_024447675.1:c.1375C>T XP_024303443.1:p.Arg459Ter
XM_024447676.1:c.592C>T XP_024303444.1:p.Arg198Ter
XM_024447677.1:c.592C>T XP_024303445.1:p.Arg198Ter
XM_024447678.1:c.1375C>T XP_024303446.1:p.Arg459Ter
XM_024447679.1:c.1375C>T XP_024303447.1:p.Arg459Ter
XM_024447680.1:c.1354C>T XP_024303448.1:p.Arg452Ter