Canonical Allele Identifier: CA375793237

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707478C>T (hg19) ; chr9:g.137813026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813026C>T , CM000671.2:g.137813026C>T	GRCh38
NC_000009.11:g.140707478C>T , CM000671.1:g.140707478C>T	GRCh37
NC_000009.10:g.139827299C>T	NCBI36
NG_011776.1:g.199035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2888C>T MANE Select	ENSP00000417980.1:p.Ser963Leu
ENST00000636027.1:c.2774C>T	ENSP00000489961.1:p.Ser925Leu
ENST00000637161.1:c.2795C>T	ENSP00000490328.1:p.Ser932Leu
ENST00000637261.1:c.2928C>T	ENSP00000490815.1:n.2928C>T
ENST00000637891.1:c.782C>T	ENSP00000490907.1:p.Ser261Leu
ENST00000460843.5:c.2888C>T	ENSP00000417980.1:p.Ser963Leu
ENST00000462942.3:c.1745C>T	ENSP00000436107.1:p.Ser582Leu
ENST00000486164.5:c.575C>T
ENST00000488242.2:n.414C>T
NM_024757.4:c.2888C>T	NP_079033.4:p.Ser963Leu
XM_005266105.3:c.2879C>T	XP_005266162.1:p.Ser960Leu
XM_005266110.1:c.2795C>T	XP_005266167.1:p.Ser932Leu
XM_006717288.2:c.2870C>T	XP_006717351.1:p.Ser957Leu
XM_011519021.1:c.2897C>T	XP_011517323.1:p.Ser966Leu
XM_011519022.1:c.2894C>T	XP_011517324.1:p.Ser965Leu
XM_011519023.1:c.2876C>T	XP_011517325.1:p.Ser959Leu
XM_011519024.1:c.2819C>T	XP_011517326.1:p.Ser940Leu
XM_011519025.1:c.2795C>T	XP_011517327.1:p.Ser932Leu
XM_011519026.1:c.2753C>T	XP_011517328.1:p.Ser918Leu
XM_011519029.1:c.1319C>T	XP_011517331.1:p.Ser440Leu
XM_011519030.1:c.671C>T	XP_011517332.1:p.Ser224Leu
XM_011519031.1:c.458C>T	XP_011517333.1:p.Ser153Leu
XM_011519032.1:c.458C>T	XP_011517334.1:p.Ser153Leu
XM_011519033.1:c.2732C>T	XP_011517335.1:p.Ser911Leu
NM_001354263.1:c.2867C>T	NP_001341192.1:p.Ser956Leu
XM_005266105.5:c.2879C>T	XP_005266162.1:p.Ser960Leu
XM_011519021.3:c.2897C>T	XP_011517323.1:p.Ser966Leu
XM_011519022.3:c.2894C>T	XP_011517324.1:p.Ser965Leu
XM_011519023.3:c.2876C>T	XP_011517325.1:p.Ser959Leu
XM_011519029.3:c.1319C>T	XP_011517331.1:p.Ser440Leu
XM_011519030.3:c.671C>T	XP_011517332.1:p.Ser224Leu
XM_017015134.1:c.2873C>T	XP_016870623.1:p.Ser958Leu
XM_017015136.2:c.2789C>T	XP_016870625.1:p.Ser930Leu
XM_017015137.1:c.2774C>T	XP_016870626.1:p.Ser925Leu
XM_017015138.1:c.2774C>T	XP_016870627.1:p.Ser925Leu
XM_024447674.1:c.2717C>T	XP_024303442.1:p.Ser906Leu
XM_024447675.1:c.2651C>T	XP_024303443.1:p.Ser884Leu
XM_024447676.1:c.2012C>T	XP_024303444.1:p.Ser671Leu
XM_024447677.1:c.2012C>T	XP_024303445.1:p.Ser671Leu
XM_024447680.1:c.2630C>T	XP_024303448.1:p.Ser877Leu
NM_024757.5:c.2888C>T MANE Select	NP_079033.4:p.Ser963Leu
NM_001354263.2:c.2867C>T	NP_001341192.1:p.Ser956Leu