Canonical Allele Identifier: CA375793420

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707525G>T (hg19) ; chr9:g.137813073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813073G>T , CM000671.2:g.137813073G>T	GRCh38
NC_000009.11:g.140707525G>T , CM000671.1:g.140707525G>T	GRCh37
NC_000009.10:g.139827346G>T	NCBI36
NG_011776.1:g.199082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2935G>T MANE Select	ENSP00000417980.1:p.Ala979Ser
ENST00000636027.1:c.2821G>T	ENSP00000489961.1:p.Ala941Ser
ENST00000637161.1:c.2842G>T	ENSP00000490328.1:p.Ala948Ser
ENST00000637261.1:c.2975G>T	ENSP00000490815.1:n.2975G>T
ENST00000637891.1:c.829G>T	ENSP00000490907.1:p.Ala277Ser
ENST00000460843.5:c.2935G>T	ENSP00000417980.1:p.Ala979Ser
ENST00000462942.3:c.1792G>T	ENSP00000436107.1:p.Ala598Ser
ENST00000486164.5:c.622G>T
ENST00000488242.2:n.461G>T
NM_024757.4:c.2935G>T	NP_079033.4:p.Ala979Ser
XM_005266105.3:c.2926G>T	XP_005266162.1:p.Ala976Ser
XM_005266110.1:c.2842G>T	XP_005266167.1:p.Ala948Ser
XM_006717288.2:c.2917G>T	XP_006717351.1:p.Ala973Ser
XM_011519021.1:c.2944G>T	XP_011517323.1:p.Ala982Ser
XM_011519022.1:c.2941G>T	XP_011517324.1:p.Ala981Ser
XM_011519023.1:c.2923G>T	XP_011517325.1:p.Ala975Ser
XM_011519024.1:c.2866G>T	XP_011517326.1:p.Ala956Ser
XM_011519025.1:c.2842G>T	XP_011517327.1:p.Ala948Ser
XM_011519026.1:c.2800G>T	XP_011517328.1:p.Ala934Ser
XM_011519029.1:c.1366G>T	XP_011517331.1:p.Ala456Ser
XM_011519030.1:c.718G>T	XP_011517332.1:p.Ala240Ser
XM_011519031.1:c.505G>T	XP_011517333.1:p.Ala169Ser
XM_011519032.1:c.505G>T	XP_011517334.1:p.Ala169Ser
XM_011519033.1:c.2779G>T	XP_011517335.1:p.Ala927Ser
NM_001354263.1:c.2914G>T	NP_001341192.1:p.Ala972Ser
XM_005266105.5:c.2926G>T	XP_005266162.1:p.Ala976Ser
XM_011519021.3:c.2944G>T	XP_011517323.1:p.Ala982Ser
XM_011519022.3:c.2941G>T	XP_011517324.1:p.Ala981Ser
XM_011519023.3:c.2923G>T	XP_011517325.1:p.Ala975Ser
XM_011519029.3:c.1366G>T	XP_011517331.1:p.Ala456Ser
XM_011519030.3:c.718G>T	XP_011517332.1:p.Ala240Ser
XM_017015134.1:c.2920G>T	XP_016870623.1:p.Ala974Ser
XM_017015136.2:c.2836G>T	XP_016870625.1:p.Ala946Ser
XM_017015137.1:c.2821G>T	XP_016870626.1:p.Ala941Ser
XM_017015138.1:c.2821G>T	XP_016870627.1:p.Ala941Ser
XM_024447674.1:c.2764G>T	XP_024303442.1:p.Ala922Ser
XM_024447675.1:c.2698G>T	XP_024303443.1:p.Ala900Ser
XM_024447676.1:c.2059G>T	XP_024303444.1:p.Ala687Ser
XM_024447677.1:c.2059G>T	XP_024303445.1:p.Ala687Ser
XM_024447680.1:c.2677G>T	XP_024303448.1:p.Ala893Ser
NM_024757.5:c.2935G>T MANE Select	NP_079033.4:p.Ala979Ser
NM_001354263.2:c.2914G>T	NP_001341192.1:p.Ala972Ser