Canonical Allele Identifier: CA375793242

Gene: EHMT1

Linked Data

• COSMIC: COSM6007570 ; COSM6007571
• MyVariant Identifiers: chr9:g.140707480G>A (hg19) ; chr9:g.137813028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813028G>A , CM000671.2:g.137813028G>A	GRCh38
NC_000009.11:g.140707480G>A , CM000671.1:g.140707480G>A	GRCh37
NC_000009.10:g.139827301G>A	NCBI36
NG_011776.1:g.199037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2890G>A MANE Select	ENSP00000417980.1:p.Asp964Asn
ENST00000636027.1:c.2776G>A	ENSP00000489961.1:p.Asp926Asn
ENST00000637161.1:c.2797G>A	ENSP00000490328.1:p.Asp933Asn
ENST00000637261.1:c.2930G>A	ENSP00000490815.1:n.2930G>A
ENST00000637891.1:c.784G>A	ENSP00000490907.1:p.Asp262Asn
ENST00000460843.5:c.2890G>A	ENSP00000417980.1:p.Asp964Asn
ENST00000462942.3:c.1747G>A	ENSP00000436107.1:p.Asp583Asn
ENST00000486164.5:c.577G>A
ENST00000488242.2:n.416G>A
NM_024757.4:c.2890G>A	NP_079033.4:p.Asp964Asn
XM_005266105.3:c.2881G>A	XP_005266162.1:p.Asp961Asn
XM_005266110.1:c.2797G>A	XP_005266167.1:p.Asp933Asn
XM_006717288.2:c.2872G>A	XP_006717351.1:p.Asp958Asn
XM_011519021.1:c.2899G>A	XP_011517323.1:p.Asp967Asn
XM_011519022.1:c.2896G>A	XP_011517324.1:p.Asp966Asn
XM_011519023.1:c.2878G>A	XP_011517325.1:p.Asp960Asn
XM_011519024.1:c.2821G>A	XP_011517326.1:p.Asp941Asn
XM_011519025.1:c.2797G>A	XP_011517327.1:p.Asp933Asn
XM_011519026.1:c.2755G>A	XP_011517328.1:p.Asp919Asn
XM_011519029.1:c.1321G>A	XP_011517331.1:p.Asp441Asn
XM_011519030.1:c.673G>A	XP_011517332.1:p.Asp225Asn
XM_011519031.1:c.460G>A	XP_011517333.1:p.Asp154Asn
XM_011519032.1:c.460G>A	XP_011517334.1:p.Asp154Asn
XM_011519033.1:c.2734G>A	XP_011517335.1:p.Asp912Asn
NM_001354263.1:c.2869G>A	NP_001341192.1:p.Asp957Asn
XM_005266105.5:c.2881G>A	XP_005266162.1:p.Asp961Asn
XM_011519021.3:c.2899G>A	XP_011517323.1:p.Asp967Asn
XM_011519022.3:c.2896G>A	XP_011517324.1:p.Asp966Asn
XM_011519023.3:c.2878G>A	XP_011517325.1:p.Asp960Asn
XM_011519029.3:c.1321G>A	XP_011517331.1:p.Asp441Asn
XM_011519030.3:c.673G>A	XP_011517332.1:p.Asp225Asn
XM_017015134.1:c.2875G>A	XP_016870623.1:p.Asp959Asn
XM_017015136.2:c.2791G>A	XP_016870625.1:p.Asp931Asn
XM_017015137.1:c.2776G>A	XP_016870626.1:p.Asp926Asn
XM_017015138.1:c.2776G>A	XP_016870627.1:p.Asp926Asn
XM_024447674.1:c.2719G>A	XP_024303442.1:p.Asp907Asn
XM_024447675.1:c.2653G>A	XP_024303443.1:p.Asp885Asn
XM_024447676.1:c.2014G>A	XP_024303444.1:p.Asp672Asn
XM_024447677.1:c.2014G>A	XP_024303445.1:p.Asp672Asn
XM_024447680.1:c.2632G>A	XP_024303448.1:p.Asp878Asn
NM_024757.5:c.2890G>A MANE Select	NP_079033.4:p.Asp964Asn
NM_001354263.2:c.2869G>A	NP_001341192.1:p.Asp957Asn