Canonical Allele Identifier: CA375793402

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707522T>C (hg19) ; chr9:g.137813070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813070T>C , CM000671.2:g.137813070T>C	GRCh38
NC_000009.11:g.140707522T>C , CM000671.1:g.140707522T>C	GRCh37
NC_000009.10:g.139827343T>C	NCBI36
NG_011776.1:g.199079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2932T>C MANE Select	ENSP00000417980.1:p.Cys978Arg
ENST00000636027.1:c.2818T>C	ENSP00000489961.1:p.Cys940Arg
ENST00000637161.1:c.2839T>C	ENSP00000490328.1:p.Cys947Arg
ENST00000637261.1:c.2972T>C	ENSP00000490815.1:n.2972T>C
ENST00000637891.1:c.826T>C	ENSP00000490907.1:p.Cys276Arg
ENST00000460843.5:c.2932T>C	ENSP00000417980.1:p.Cys978Arg
ENST00000462942.3:c.1789T>C	ENSP00000436107.1:p.Cys597Arg
ENST00000486164.5:c.619T>C
ENST00000488242.2:n.458T>C
NM_024757.4:c.2932T>C	NP_079033.4:p.Cys978Arg
XM_005266105.3:c.2923T>C	XP_005266162.1:p.Cys975Arg
XM_005266110.1:c.2839T>C	XP_005266167.1:p.Cys947Arg
XM_006717288.2:c.2914T>C	XP_006717351.1:p.Cys972Arg
XM_011519021.1:c.2941T>C	XP_011517323.1:p.Cys981Arg
XM_011519022.1:c.2938T>C	XP_011517324.1:p.Cys980Arg
XM_011519023.1:c.2920T>C	XP_011517325.1:p.Cys974Arg
XM_011519024.1:c.2863T>C	XP_011517326.1:p.Cys955Arg
XM_011519025.1:c.2839T>C	XP_011517327.1:p.Cys947Arg
XM_011519026.1:c.2797T>C	XP_011517328.1:p.Cys933Arg
XM_011519029.1:c.1363T>C	XP_011517331.1:p.Cys455Arg
XM_011519030.1:c.715T>C	XP_011517332.1:p.Cys239Arg
XM_011519031.1:c.502T>C	XP_011517333.1:p.Cys168Arg
XM_011519032.1:c.502T>C	XP_011517334.1:p.Cys168Arg
XM_011519033.1:c.2776T>C	XP_011517335.1:p.Cys926Arg
NM_001354263.1:c.2911T>C	NP_001341192.1:p.Cys971Arg
XM_005266105.5:c.2923T>C	XP_005266162.1:p.Cys975Arg
XM_011519021.3:c.2941T>C	XP_011517323.1:p.Cys981Arg
XM_011519022.3:c.2938T>C	XP_011517324.1:p.Cys980Arg
XM_011519023.3:c.2920T>C	XP_011517325.1:p.Cys974Arg
XM_011519029.3:c.1363T>C	XP_011517331.1:p.Cys455Arg
XM_011519030.3:c.715T>C	XP_011517332.1:p.Cys239Arg
XM_017015134.1:c.2917T>C	XP_016870623.1:p.Cys973Arg
XM_017015136.2:c.2833T>C	XP_016870625.1:p.Cys945Arg
XM_017015137.1:c.2818T>C	XP_016870626.1:p.Cys940Arg
XM_017015138.1:c.2818T>C	XP_016870627.1:p.Cys940Arg
XM_024447674.1:c.2761T>C	XP_024303442.1:p.Cys921Arg
XM_024447675.1:c.2695T>C	XP_024303443.1:p.Cys899Arg
XM_024447676.1:c.2056T>C	XP_024303444.1:p.Cys686Arg
XM_024447677.1:c.2056T>C	XP_024303445.1:p.Cys686Arg
XM_024447680.1:c.2674T>C	XP_024303448.1:p.Cys892Arg
NM_024757.5:c.2932T>C MANE Select	NP_079033.4:p.Cys978Arg
NM_001354263.2:c.2911T>C	NP_001341192.1:p.Cys971Arg