Canonical Allele Identifier: CA375794600

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707971A>C (hg19) ; chr9:g.137813519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813519A>C , CM000671.2:g.137813519A>C	GRCh38
NC_000009.11:g.140707971A>C , CM000671.1:g.140707971A>C	GRCh37
NC_000009.10:g.139827792A>C	NCBI36
NG_011776.1:g.199528A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3169A>C MANE Select	ENSP00000417980.1:p.Thr1057Pro
ENST00000637161.1:c.3076A>C	ENSP00000490328.1:p.Thr1026Pro
ENST00000637261.1:c.3209A>C	ENSP00000490815.1:n.3209A>C
ENST00000637891.1:c.1063A>C	ENSP00000490907.1:p.Thr355Pro
ENST00000460843.5:c.3169A>C	ENSP00000417980.1:p.Thr1057Pro
ENST00000462942.3:c.2026A>C	ENSP00000436107.1:p.Thr676Pro
ENST00000483653.1:n.29A>C
ENST00000488242.2:n.695A>C
NM_024757.4:c.3169A>C	NP_079033.4:p.Thr1057Pro
XM_005266105.3:c.3160A>C	XP_005266162.1:p.Thr1054Pro
XM_005266110.1:c.3076A>C	XP_005266167.1:p.Thr1026Pro
XM_006717288.2:c.3151A>C	XP_006717351.1:p.Thr1051Pro
XM_011519021.1:c.3178A>C	XP_011517323.1:p.Thr1060Pro
XM_011519022.1:c.3175A>C	XP_011517324.1:p.Thr1059Pro
XM_011519023.1:c.3157A>C	XP_011517325.1:p.Thr1053Pro
XM_011519024.1:c.3100A>C	XP_011517326.1:p.Thr1034Pro
XM_011519025.1:c.3076A>C	XP_011517327.1:p.Thr1026Pro
XM_011519026.1:c.3034A>C	XP_011517328.1:p.Thr1012Pro
XM_011519029.1:c.1600A>C	XP_011517331.1:p.Thr534Pro
XM_011519030.1:c.952A>C	XP_011517332.1:p.Thr318Pro
XM_011519031.1:c.739A>C	XP_011517333.1:p.Thr247Pro
XM_011519032.1:c.739A>C	XP_011517334.1:p.Thr247Pro
XM_011519033.1:c.3013A>C	XP_011517335.1:p.Thr1005Pro
NM_001354263.1:c.3148A>C	NP_001341192.1:p.Thr1050Pro
XM_005266105.5:c.3160A>C	XP_005266162.1:p.Thr1054Pro
XM_011519021.3:c.3178A>C	XP_011517323.1:p.Thr1060Pro
XM_011519022.3:c.3175A>C	XP_011517324.1:p.Thr1059Pro
XM_011519023.3:c.3157A>C	XP_011517325.1:p.Thr1053Pro
XM_011519029.3:c.1600A>C	XP_011517331.1:p.Thr534Pro
XM_011519030.3:c.952A>C	XP_011517332.1:p.Thr318Pro
XM_017015134.1:c.3154A>C	XP_016870623.1:p.Thr1052Pro
XM_017015136.2:c.3070A>C	XP_016870625.1:p.Thr1024Pro
XM_017015137.1:c.3055A>C	XP_016870626.1:p.Thr1019Pro
XM_017015138.1:c.3055A>C	XP_016870627.1:p.Thr1019Pro
XM_024447674.1:c.2998A>C	XP_024303442.1:p.Thr1000Pro
XM_024447675.1:c.2932A>C	XP_024303443.1:p.Thr978Pro
XM_024447676.1:c.2293A>C	XP_024303444.1:p.Thr765Pro
XM_024447677.1:c.2293A>C	XP_024303445.1:p.Thr765Pro
XM_024447680.1:c.2911A>C	XP_024303448.1:p.Thr971Pro
NM_024757.5:c.3169A>C MANE Select	NP_079033.4:p.Thr1057Pro
NM_001354263.2:c.3148A>C	NP_001341192.1:p.Thr1050Pro