Canonical Allele Identifier: CA5374900

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137782371G>A , CM000671.2:g.137782371G>A	GRCh38
NC_000009.11:g.140676823G>A , CM000671.1:g.140676823G>A	GRCh37
NC_000009.10:g.139796644G>A	NCBI36
NG_011776.1:g.168380G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2356G>A MANE Select	NP_079033.4:p.Val786Met
ENST00000460843.6:c.2356G>A MANE Select	ENSP00000417980.1:p.Val786Met
NM_001145527.1:c.2356G>A	NP_001138999.1:p.Val786Met
NM_001145527.2:c.2356G>A	NP_001138999.1:p.Val786Met
NM_001354259.1:c.2263G>A	NP_001341188.1:p.Val755Met
NM_001354259.2:c.2263G>A	NP_001341188.1:p.Val755Met
NM_001354263.1:c.2335G>A	NP_001341192.1:p.Val779Met
NM_001354263.2:c.2335G>A	NP_001341192.1:p.Val779Met
NM_024757.4:c.2356G>A	NP_079033.4:p.Val786Met
ENST00000371394.6:c.*2091G>A	ENSP00000485945.1:n.*2091G>A
ENST00000460843.5:c.2356G>A	ENSP00000417980.1:p.Val786Met
ENST00000462484.5:c.2356G>A	ENSP00000417328.1:p.Val786Met
ENST00000462942.3:c.1213G>A	ENSP00000436107.1:p.Val405Met
ENST00000626603.1:n.1061-4983C>T
ENST00000636027.1:c.2242G>A	ENSP00000489961.1:p.Val748Met
ENST00000637161.1:c.2263G>A	ENSP00000490328.1:p.Val755Met
ENST00000637261.1:c.2396G>A	ENSP00000490815.1:n.2396G>A
ENST00000637891.1:c.250G>A	ENSP00000490907.1:p.Val84Met
ENST00000637949.1:c.34G>A	ENSP00000489786.1:p.Val12Met
XM_005266105.3:c.2347G>A	XP_005266162.1:p.Val783Met
XM_005266105.5:c.2347G>A	XP_005266162.1:p.Val783Met
XM_005266110.1:c.2263G>A	XP_005266167.1:p.Val755Met
XM_006717288.2:c.2338G>A	XP_006717351.1:p.Val780Met
XM_011519021.1:c.2365G>A	XP_011517323.1:p.Val789Met
XM_011519021.3:c.2365G>A	XP_011517323.1:p.Val789Met
XM_011519022.1:c.2362G>A	XP_011517324.1:p.Val788Met
XM_011519022.3:c.2362G>A	XP_011517324.1:p.Val788Met
XM_011519023.1:c.2344G>A	XP_011517325.1:p.Val782Met
XM_011519023.3:c.2344G>A	XP_011517325.1:p.Val782Met
XM_011519024.1:c.2287G>A	XP_011517326.1:p.Val763Met
XM_011519025.1:c.2263G>A	XP_011517327.1:p.Val755Met
XM_011519026.1:c.2221G>A	XP_011517328.1:p.Val741Met
XM_011519027.1:c.2365G>A	XP_011517329.1:p.Val789Met
XM_011519028.1:c.2365G>A	XP_011517330.1:p.Val789Met
XM_011519029.1:c.787G>A	XP_011517331.1:p.Val263Met
XM_011519029.3:c.787G>A	XP_011517331.1:p.Val263Met
XM_011519033.1:c.2200G>A	XP_011517335.1:p.Val734Met
XM_017015134.1:c.2341G>A	XP_016870623.1:p.Val781Met
XM_017015136.2:c.2257G>A	XP_016870625.1:p.Val753Met
XM_017015137.1:c.2242G>A	XP_016870626.1:p.Val748Met
XM_017015138.1:c.2242G>A	XP_016870627.1:p.Val748Met
XM_024447674.1:c.2185G>A	XP_024303442.1:p.Val729Met
XM_024447675.1:c.2119G>A	XP_024303443.1:p.Val707Met
XM_024447676.1:c.1480G>A	XP_024303444.1:p.Val494Met
XM_024447677.1:c.1480G>A	XP_024303445.1:p.Val494Met
XM_024447678.1:c.2263G>A	XP_024303446.1:p.Val755Met
XM_024447679.1:c.2263G>A	XP_024303447.1:p.Val755Met
XM_024447680.1:c.2098G>A	XP_024303448.1:p.Val700Met