Canonical Allele Identifier: CA375776674

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140671218C>T (hg19) ; chr9:g.137776766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776766C>T , CM000671.2:g.137776766C>T	GRCh38
NC_000009.11:g.140671218C>T , CM000671.1:g.140671218C>T	GRCh37
NC_000009.10:g.139791039C>T	NCBI36
NG_011776.1:g.162775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1940C>T MANE Select	ENSP00000417980.1:p.Thr647Ile
ENST00000636027.1:c.1826C>T	ENSP00000489961.1:p.Thr609Ile
ENST00000637161.1:c.1847C>T	ENSP00000490328.1:p.Thr616Ile
ENST00000637261.1:c.1980C>T	ENSP00000490815.1:n.1980C>T
ENST00000638071.1:c.1567C>T
ENST00000640639.1:c.1109C>T	ENSP00000491823.1:p.Thr370Ile
ENST00000371394.6:c.*1675C>T	ENSP00000485945.1:n.*1675C>T
ENST00000460843.5:c.1940C>T	ENSP00000417980.1:p.Thr647Ile
ENST00000462484.5:c.1940C>T	ENSP00000417328.1:p.Thr647Ile
ENST00000462942.3:c.797C>T	ENSP00000436107.1:p.Thr266Ile
ENST00000465566.2:c.488C>T	ENSP00000486261.1:p.Thr163Ile
ENST00000626603.1:n.1683G>A
NM_001145527.1:c.1940C>T	NP_001138999.1:p.Thr647Ile
NM_024757.4:c.1940C>T	NP_079033.4:p.Thr647Ile
XM_005266105.3:c.1931C>T	XP_005266162.1:p.Thr644Ile
XM_005266110.1:c.1847C>T	XP_005266167.1:p.Thr616Ile
XM_006717288.2:c.1922C>T	XP_006717351.1:p.Thr641Ile
XM_011519021.1:c.1949C>T	XP_011517323.1:p.Thr650Ile
XM_011519022.1:c.1946C>T	XP_011517324.1:p.Thr649Ile
XM_011519023.1:c.1928C>T	XP_011517325.1:p.Thr643Ile
XM_011519024.1:c.1871C>T	XP_011517326.1:p.Thr624Ile
XM_011519025.1:c.1847C>T	XP_011517327.1:p.Thr616Ile
XM_011519026.1:c.1805C>T	XP_011517328.1:p.Thr602Ile
XM_011519027.1:c.1949C>T	XP_011517329.1:p.Thr650Ile
XM_011519028.1:c.1949C>T	XP_011517330.1:p.Thr650Ile
XM_011519029.1:c.371C>T	XP_011517331.1:p.Thr124Ile
XM_011519033.1:c.1784C>T	XP_011517335.1:p.Thr595Ile
NM_001354259.1:c.1847C>T	NP_001341188.1:p.Thr616Ile
NM_001354263.1:c.1919C>T	NP_001341192.1:p.Thr640Ile
XM_005266105.5:c.1931C>T	XP_005266162.1:p.Thr644Ile
XM_011519021.3:c.1949C>T	XP_011517323.1:p.Thr650Ile
XM_011519022.3:c.1946C>T	XP_011517324.1:p.Thr649Ile
XM_011519023.3:c.1928C>T	XP_011517325.1:p.Thr643Ile
XM_011519029.3:c.371C>T	XP_011517331.1:p.Thr124Ile
XM_017015134.1:c.1925C>T	XP_016870623.1:p.Thr642Ile
XM_017015136.2:c.1841C>T	XP_016870625.1:p.Thr614Ile
XM_017015137.1:c.1826C>T	XP_016870626.1:p.Thr609Ile
XM_017015138.1:c.1826C>T	XP_016870627.1:p.Thr609Ile
XM_024447674.1:c.1769C>T	XP_024303442.1:p.Thr590Ile
XM_024447675.1:c.1703C>T	XP_024303443.1:p.Thr568Ile
XM_024447676.1:c.1064C>T	XP_024303444.1:p.Thr355Ile
XM_024447677.1:c.1064C>T	XP_024303445.1:p.Thr355Ile
XM_024447678.1:c.1847C>T	XP_024303446.1:p.Thr616Ile
XM_024447679.1:c.1847C>T	XP_024303447.1:p.Thr616Ile
XM_024447680.1:c.1682C>T	XP_024303448.1:p.Thr561Ile
NM_024757.5:c.1940C>T MANE Select	NP_079033.4:p.Thr647Ile
NM_001145527.2:c.1940C>T	NP_001138999.1:p.Thr647Ile
NM_001354259.2:c.1847C>T	NP_001341188.1:p.Thr616Ile
NM_001354263.2:c.1919C>T	NP_001341192.1:p.Thr640Ile