Canonical Allele Identifier: CA375776039

Gene: EHMT1

Linked Data

• dbSNP Id: rs1950987954
• COSMIC: COSM3699610 ; COSM3699611 ; COSM5140146
• MyVariant Identifiers: chr9:g.140671139G>A (hg19) ; chr9:g.137776687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776687G>A , CM000671.2:g.137776687G>A	GRCh38
NC_000009.11:g.140671139G>A , CM000671.1:g.140671139G>A	GRCh37
NC_000009.10:g.139790960G>A	NCBI36
NG_011776.1:g.162696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1861G>A MANE Select	ENSP00000417980.1:p.Val621Ile
ENST00000636027.1:c.1747G>A	ENSP00000489961.1:p.Val583Ile
ENST00000637161.1:c.1768G>A	ENSP00000490328.1:p.Val590Ile
ENST00000637261.1:c.1901G>A	ENSP00000490815.1:n.1901G>A
ENST00000638071.1:c.1488G>A
ENST00000640639.1:c.1030G>A	ENSP00000491823.1:p.Val344Ile
ENST00000371394.6:c.*1596G>A	ENSP00000485945.1:n.*1596G>A
ENST00000460843.5:c.1861G>A	ENSP00000417980.1:p.Val621Ile
ENST00000462484.5:c.1861G>A	ENSP00000417328.1:p.Val621Ile
ENST00000462942.3:c.718G>A	ENSP00000436107.1:p.Val240Ile
ENST00000465566.2:c.409G>A	ENSP00000486261.1:p.Val137Ile
ENST00000626603.1:n.1762C>T
NM_001145527.1:c.1861G>A	NP_001138999.1:p.Val621Ile
NM_024757.4:c.1861G>A	NP_079033.4:p.Val621Ile
XM_005266105.3:c.1852G>A	XP_005266162.1:p.Val618Ile
XM_005266110.1:c.1768G>A	XP_005266167.1:p.Val590Ile
XM_006717288.2:c.1843G>A	XP_006717351.1:p.Val615Ile
XM_011519021.1:c.1870G>A	XP_011517323.1:p.Val624Ile
XM_011519022.1:c.1867G>A	XP_011517324.1:p.Val623Ile
XM_011519023.1:c.1849G>A	XP_011517325.1:p.Val617Ile
XM_011519024.1:c.1792G>A	XP_011517326.1:p.Val598Ile
XM_011519025.1:c.1768G>A	XP_011517327.1:p.Val590Ile
XM_011519026.1:c.1726G>A	XP_011517328.1:p.Val576Ile
XM_011519027.1:c.1870G>A	XP_011517329.1:p.Val624Ile
XM_011519028.1:c.1870G>A	XP_011517330.1:p.Val624Ile
XM_011519029.1:c.292G>A	XP_011517331.1:p.Val98Ile
XM_011519033.1:c.1705G>A	XP_011517335.1:p.Val569Ile
NM_001354259.1:c.1768G>A	NP_001341188.1:p.Val590Ile
NM_001354263.1:c.1840G>A	NP_001341192.1:p.Val614Ile
XM_005266105.5:c.1852G>A	XP_005266162.1:p.Val618Ile
XM_011519021.3:c.1870G>A	XP_011517323.1:p.Val624Ile
XM_011519022.3:c.1867G>A	XP_011517324.1:p.Val623Ile
XM_011519023.3:c.1849G>A	XP_011517325.1:p.Val617Ile
XM_011519029.3:c.292G>A	XP_011517331.1:p.Val98Ile
XM_017015134.1:c.1846G>A	XP_016870623.1:p.Val616Ile
XM_017015136.2:c.1762G>A	XP_016870625.1:p.Val588Ile
XM_017015137.1:c.1747G>A	XP_016870626.1:p.Val583Ile
XM_017015138.1:c.1747G>A	XP_016870627.1:p.Val583Ile
XM_024447674.1:c.1690G>A	XP_024303442.1:p.Val564Ile
XM_024447675.1:c.1624G>A	XP_024303443.1:p.Val542Ile
XM_024447676.1:c.985G>A	XP_024303444.1:p.Val329Ile
XM_024447677.1:c.985G>A	XP_024303445.1:p.Val329Ile
XM_024447678.1:c.1768G>A	XP_024303446.1:p.Val590Ile
XM_024447679.1:c.1768G>A	XP_024303447.1:p.Val590Ile
XM_024447680.1:c.1603G>A	XP_024303448.1:p.Val535Ile
NM_024757.5:c.1861G>A MANE Select	NP_079033.4:p.Val621Ile
NM_001145527.2:c.1861G>A	NP_001138999.1:p.Val621Ile
NM_001354259.2:c.1768G>A	NP_001341188.1:p.Val590Ile
NM_001354263.2:c.1840G>A	NP_001341192.1:p.Val614Ile