Canonical Allele Identifier: CA375794420

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707941A>C (hg19) ; chr9:g.137813489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813489A>C , CM000671.2:g.137813489A>C	GRCh38
NC_000009.11:g.140707941A>C , CM000671.1:g.140707941A>C	GRCh37
NC_000009.10:g.139827762A>C	NCBI36
NG_011776.1:g.199498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3139A>C MANE Select	ENSP00000417980.1:p.Thr1047Pro
ENST00000637161.1:c.3046A>C	ENSP00000490328.1:p.Thr1016Pro
ENST00000637261.1:c.3179A>C	ENSP00000490815.1:n.3179A>C
ENST00000637891.1:c.1033A>C	ENSP00000490907.1:p.Thr345Pro
ENST00000460843.5:c.3139A>C	ENSP00000417980.1:p.Thr1047Pro
ENST00000462942.3:c.1996A>C	ENSP00000436107.1:p.Thr666Pro
ENST00000488242.2:n.665A>C
NM_024757.4:c.3139A>C	NP_079033.4:p.Thr1047Pro
XM_005266105.3:c.3130A>C	XP_005266162.1:p.Thr1044Pro
XM_005266110.1:c.3046A>C	XP_005266167.1:p.Thr1016Pro
XM_006717288.2:c.3121A>C	XP_006717351.1:p.Thr1041Pro
XM_011519021.1:c.3148A>C	XP_011517323.1:p.Thr1050Pro
XM_011519022.1:c.3145A>C	XP_011517324.1:p.Thr1049Pro
XM_011519023.1:c.3127A>C	XP_011517325.1:p.Thr1043Pro
XM_011519024.1:c.3070A>C	XP_011517326.1:p.Thr1024Pro
XM_011519025.1:c.3046A>C	XP_011517327.1:p.Thr1016Pro
XM_011519026.1:c.3004A>C	XP_011517328.1:p.Thr1002Pro
XM_011519029.1:c.1570A>C	XP_011517331.1:p.Thr524Pro
XM_011519030.1:c.922A>C	XP_011517332.1:p.Thr308Pro
XM_011519031.1:c.709A>C	XP_011517333.1:p.Thr237Pro
XM_011519032.1:c.709A>C	XP_011517334.1:p.Thr237Pro
XM_011519033.1:c.2983A>C	XP_011517335.1:p.Thr995Pro
NM_001354263.1:c.3118A>C	NP_001341192.1:p.Thr1040Pro
XM_005266105.5:c.3130A>C	XP_005266162.1:p.Thr1044Pro
XM_011519021.3:c.3148A>C	XP_011517323.1:p.Thr1050Pro
XM_011519022.3:c.3145A>C	XP_011517324.1:p.Thr1049Pro
XM_011519023.3:c.3127A>C	XP_011517325.1:p.Thr1043Pro
XM_011519029.3:c.1570A>C	XP_011517331.1:p.Thr524Pro
XM_011519030.3:c.922A>C	XP_011517332.1:p.Thr308Pro
XM_017015134.1:c.3124A>C	XP_016870623.1:p.Thr1042Pro
XM_017015136.2:c.3040A>C	XP_016870625.1:p.Thr1014Pro
XM_017015137.1:c.3025A>C	XP_016870626.1:p.Thr1009Pro
XM_017015138.1:c.3025A>C	XP_016870627.1:p.Thr1009Pro
XM_024447674.1:c.2968A>C	XP_024303442.1:p.Thr990Pro
XM_024447675.1:c.2902A>C	XP_024303443.1:p.Thr968Pro
XM_024447676.1:c.2263A>C	XP_024303444.1:p.Thr755Pro
XM_024447677.1:c.2263A>C	XP_024303445.1:p.Thr755Pro
XM_024447680.1:c.2881A>C	XP_024303448.1:p.Thr961Pro
NM_024757.5:c.3139A>C MANE Select	NP_079033.4:p.Thr1047Pro
NM_001354263.2:c.3118A>C	NP_001341192.1:p.Thr1040Pro