Canonical Allele Identifier: CA375776685
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776769C>T , CM000671.2:g.137776769C>T GRCh38
NC_000009.11:g.140671221C>T , CM000671.1:g.140671221C>T GRCh37
NC_000009.10:g.139791042C>T NCBI36
NG_011776.1:g.162778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1943C>T MANE Select ENSP00000417980.1:p.Thr648Ile
ENST00000636027.1:c.1829C>T ENSP00000489961.1:p.Thr610Ile
ENST00000637161.1:c.1850C>T ENSP00000490328.1:p.Thr617Ile
ENST00000637261.1:c.1983C>T ENSP00000490815.1:n.1983C>T
ENST00000638071.1:c.1570C>T
ENST00000640639.1:c.1112C>T ENSP00000491823.1:p.Thr371Ile
ENST00000371394.6:c.*1678C>T ENSP00000485945.1:n.*1678C>T
ENST00000460843.5:c.1943C>T ENSP00000417980.1:p.Thr648Ile
ENST00000462484.5:c.1943C>T ENSP00000417328.1:p.Thr648Ile
ENST00000462942.3:c.800C>T ENSP00000436107.1:p.Thr267Ile
ENST00000465566.2:c.491C>T ENSP00000486261.1:p.Thr164Ile
ENST00000626603.1:n.1680G>A
NM_001145527.1:c.1943C>T NP_001138999.1:p.Thr648Ile
NM_024757.4:c.1943C>T NP_079033.4:p.Thr648Ile
XM_005266105.3:c.1934C>T XP_005266162.1:p.Thr645Ile
XM_005266110.1:c.1850C>T XP_005266167.1:p.Thr617Ile
XM_006717288.2:c.1925C>T XP_006717351.1:p.Thr642Ile
XM_011519021.1:c.1952C>T XP_011517323.1:p.Thr651Ile
XM_011519022.1:c.1949C>T XP_011517324.1:p.Thr650Ile
XM_011519023.1:c.1931C>T XP_011517325.1:p.Thr644Ile
XM_011519024.1:c.1874C>T XP_011517326.1:p.Thr625Ile
XM_011519025.1:c.1850C>T XP_011517327.1:p.Thr617Ile
XM_011519026.1:c.1808C>T XP_011517328.1:p.Thr603Ile
XM_011519027.1:c.1952C>T XP_011517329.1:p.Thr651Ile
XM_011519028.1:c.1952C>T XP_011517330.1:p.Thr651Ile
XM_011519029.1:c.374C>T XP_011517331.1:p.Thr125Ile
XM_011519033.1:c.1787C>T XP_011517335.1:p.Thr596Ile
NM_001354259.1:c.1850C>T NP_001341188.1:p.Thr617Ile
NM_001354263.1:c.1922C>T NP_001341192.1:p.Thr641Ile
XM_005266105.5:c.1934C>T XP_005266162.1:p.Thr645Ile
XM_011519021.3:c.1952C>T XP_011517323.1:p.Thr651Ile
XM_011519022.3:c.1949C>T XP_011517324.1:p.Thr650Ile
XM_011519023.3:c.1931C>T XP_011517325.1:p.Thr644Ile
XM_011519029.3:c.374C>T XP_011517331.1:p.Thr125Ile
XM_017015134.1:c.1928C>T XP_016870623.1:p.Thr643Ile
XM_017015136.2:c.1844C>T XP_016870625.1:p.Thr615Ile
XM_017015137.1:c.1829C>T XP_016870626.1:p.Thr610Ile
XM_017015138.1:c.1829C>T XP_016870627.1:p.Thr610Ile
XM_024447674.1:c.1772C>T XP_024303442.1:p.Thr591Ile
XM_024447675.1:c.1706C>T XP_024303443.1:p.Thr569Ile
XM_024447676.1:c.1067C>T XP_024303444.1:p.Thr356Ile
XM_024447677.1:c.1067C>T XP_024303445.1:p.Thr356Ile
XM_024447678.1:c.1850C>T XP_024303446.1:p.Thr617Ile
XM_024447679.1:c.1850C>T XP_024303447.1:p.Thr617Ile
XM_024447680.1:c.1685C>T XP_024303448.1:p.Thr562Ile
NM_024757.5:c.1943C>T MANE Select NP_079033.4:p.Thr648Ile
NM_001145527.2:c.1943C>T NP_001138999.1:p.Thr648Ile
NM_001354259.2:c.1850C>T NP_001341188.1:p.Thr617Ile
NM_001354263.2:c.1922C>T NP_001341192.1:p.Thr641Ile