Canonical Allele Identifier: CA345052

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 65729
• ClinVar RCV Id: RCV000055959 ; RCV001268799
• dbSNP Id: rs137852718
• MyVariant Identifiers: chr9:g.140671136C>T (hg19) ; chr9:g.137776684C>T (hg38)
• PubMed: PMID:20945554

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776684C>T , CM000671.2:g.137776684C>T	GRCh38
NC_000009.11:g.140671136C>T , CM000671.1:g.140671136C>T	GRCh37
NC_000009.10:g.139790957C>T	NCBI36
NG_011776.1:g.162693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1858C>T MANE Select	ENSP00000417980.1:p.Arg620Ter
ENST00000636027.1:c.1744C>T	ENSP00000489961.1:p.Arg582Ter
ENST00000637161.1:c.1765C>T	ENSP00000490328.1:p.Arg589Ter
ENST00000637261.1:c.1898C>T	ENSP00000490815.1:n.1898C>T
ENST00000638071.1:c.1485C>T
ENST00000640639.1:c.1027C>T	ENSP00000491823.1:p.Arg343Ter
ENST00000371394.6:c.*1593C>T	ENSP00000485945.1:n.*1593C>T
ENST00000460843.5:c.1858C>T	ENSP00000417980.1:p.Arg620Ter
ENST00000462484.5:c.1858C>T	ENSP00000417328.1:p.Arg620Ter
ENST00000462942.3:c.715C>T	ENSP00000436107.1:p.Arg239Ter
ENST00000465566.2:c.406C>T	ENSP00000486261.1:p.Arg136Ter
ENST00000626603.1:n.1765G>A
NM_001145527.1:c.1858C>T	NP_001138999.1:p.Arg620Ter
NM_024757.4:c.1858C>T	NP_079033.4:p.Arg620Ter
XM_005266105.3:c.1849C>T	XP_005266162.1:p.Arg617Ter
XM_005266110.1:c.1765C>T	XP_005266167.1:p.Arg589Ter
XM_006717288.2:c.1840C>T	XP_006717351.1:p.Arg614Ter
XM_011519021.1:c.1867C>T	XP_011517323.1:p.Arg623Ter
XM_011519022.1:c.1864C>T	XP_011517324.1:p.Arg622Ter
XM_011519023.1:c.1846C>T	XP_011517325.1:p.Arg616Ter
XM_011519024.1:c.1789C>T	XP_011517326.1:p.Arg597Ter
XM_011519025.1:c.1765C>T	XP_011517327.1:p.Arg589Ter
XM_011519026.1:c.1723C>T	XP_011517328.1:p.Arg575Ter
XM_011519027.1:c.1867C>T	XP_011517329.1:p.Arg623Ter
XM_011519028.1:c.1867C>T	XP_011517330.1:p.Arg623Ter
XM_011519029.1:c.289C>T	XP_011517331.1:p.Arg97Ter
XM_011519033.1:c.1702C>T	XP_011517335.1:p.Arg568Ter
NM_001354259.1:c.1765C>T	NP_001341188.1:p.Arg589Ter
NM_001354263.1:c.1837C>T	NP_001341192.1:p.Arg613Ter
XM_005266105.5:c.1849C>T	XP_005266162.1:p.Arg617Ter
XM_011519021.3:c.1867C>T	XP_011517323.1:p.Arg623Ter
XM_011519022.3:c.1864C>T	XP_011517324.1:p.Arg622Ter
XM_011519023.3:c.1846C>T	XP_011517325.1:p.Arg616Ter
XM_011519029.3:c.289C>T	XP_011517331.1:p.Arg97Ter
XM_017015134.1:c.1843C>T	XP_016870623.1:p.Arg615Ter
XM_017015136.2:c.1759C>T	XP_016870625.1:p.Arg587Ter
XM_017015137.1:c.1744C>T	XP_016870626.1:p.Arg582Ter
XM_017015138.1:c.1744C>T	XP_016870627.1:p.Arg582Ter
XM_024447674.1:c.1687C>T	XP_024303442.1:p.Arg563Ter
XM_024447675.1:c.1621C>T	XP_024303443.1:p.Arg541Ter
XM_024447676.1:c.982C>T	XP_024303444.1:p.Arg328Ter
XM_024447677.1:c.982C>T	XP_024303445.1:p.Arg328Ter
XM_024447678.1:c.1765C>T	XP_024303446.1:p.Arg589Ter
XM_024447679.1:c.1765C>T	XP_024303447.1:p.Arg589Ter
XM_024447680.1:c.1600C>T	XP_024303448.1:p.Arg534Ter
NM_024757.5:c.1858C>T MANE Select	NP_079033.4:p.Arg620Ter
NM_001145527.2:c.1858C>T	NP_001138999.1:p.Arg620Ter
NM_001354259.2:c.1765C>T	NP_001341188.1:p.Arg589Ter
NM_001354263.2:c.1837C>T	NP_001341192.1:p.Arg613Ter