Canonical Allele Identifier: CA375793391

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707520A>C (hg19) ; chr9:g.137813068A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813068A>C , CM000671.2:g.137813068A>C	GRCh38
NC_000009.11:g.140707520A>C , CM000671.1:g.140707520A>C	GRCh37
NC_000009.10:g.139827341A>C	NCBI36
NG_011776.1:g.199077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2930A>C MANE Select	ENSP00000417980.1:p.Gln977Pro
ENST00000636027.1:c.2816A>C	ENSP00000489961.1:p.Gln939Pro
ENST00000637161.1:c.2837A>C	ENSP00000490328.1:p.Gln946Pro
ENST00000637261.1:c.2970A>C	ENSP00000490815.1:n.2970A>C
ENST00000637891.1:c.824A>C	ENSP00000490907.1:p.Gln275Pro
ENST00000460843.5:c.2930A>C	ENSP00000417980.1:p.Gln977Pro
ENST00000462942.3:c.1787A>C	ENSP00000436107.1:p.Gln596Pro
ENST00000486164.5:c.617A>C
ENST00000488242.2:n.456A>C
NM_024757.4:c.2930A>C	NP_079033.4:p.Gln977Pro
XM_005266105.3:c.2921A>C	XP_005266162.1:p.Gln974Pro
XM_005266110.1:c.2837A>C	XP_005266167.1:p.Gln946Pro
XM_006717288.2:c.2912A>C	XP_006717351.1:p.Gln971Pro
XM_011519021.1:c.2939A>C	XP_011517323.1:p.Gln980Pro
XM_011519022.1:c.2936A>C	XP_011517324.1:p.Gln979Pro
XM_011519023.1:c.2918A>C	XP_011517325.1:p.Gln973Pro
XM_011519024.1:c.2861A>C	XP_011517326.1:p.Gln954Pro
XM_011519025.1:c.2837A>C	XP_011517327.1:p.Gln946Pro
XM_011519026.1:c.2795A>C	XP_011517328.1:p.Gln932Pro
XM_011519029.1:c.1361A>C	XP_011517331.1:p.Gln454Pro
XM_011519030.1:c.713A>C	XP_011517332.1:p.Gln238Pro
XM_011519031.1:c.500A>C	XP_011517333.1:p.Gln167Pro
XM_011519032.1:c.500A>C	XP_011517334.1:p.Gln167Pro
XM_011519033.1:c.2774A>C	XP_011517335.1:p.Gln925Pro
NM_001354263.1:c.2909A>C	NP_001341192.1:p.Gln970Pro
XM_005266105.5:c.2921A>C	XP_005266162.1:p.Gln974Pro
XM_011519021.3:c.2939A>C	XP_011517323.1:p.Gln980Pro
XM_011519022.3:c.2936A>C	XP_011517324.1:p.Gln979Pro
XM_011519023.3:c.2918A>C	XP_011517325.1:p.Gln973Pro
XM_011519029.3:c.1361A>C	XP_011517331.1:p.Gln454Pro
XM_011519030.3:c.713A>C	XP_011517332.1:p.Gln238Pro
XM_017015134.1:c.2915A>C	XP_016870623.1:p.Gln972Pro
XM_017015136.2:c.2831A>C	XP_016870625.1:p.Gln944Pro
XM_017015137.1:c.2816A>C	XP_016870626.1:p.Gln939Pro
XM_017015138.1:c.2816A>C	XP_016870627.1:p.Gln939Pro
XM_024447674.1:c.2759A>C	XP_024303442.1:p.Gln920Pro
XM_024447675.1:c.2693A>C	XP_024303443.1:p.Gln898Pro
XM_024447676.1:c.2054A>C	XP_024303444.1:p.Gln685Pro
XM_024447677.1:c.2054A>C	XP_024303445.1:p.Gln685Pro
XM_024447680.1:c.2672A>C	XP_024303448.1:p.Gln891Pro
NM_024757.5:c.2930A>C MANE Select	NP_079033.4:p.Gln977Pro
NM_001354263.2:c.2909A>C	NP_001341192.1:p.Gln970Pro