Canonical Allele Identifier: CA375791478

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140705970A>T (hg19) ; chr9:g.137811518A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811518A>T , CM000671.2:g.137811518A>T	GRCh38
NC_000009.11:g.140705970A>T , CM000671.1:g.140705970A>T	GRCh37
NC_000009.10:g.139825791A>T	NCBI36
NG_011776.1:g.197527A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2770A>T MANE Select	ENSP00000417980.1:p.Ile924Phe
ENST00000636027.1:c.2656A>T	ENSP00000489961.1:p.Ile886Phe
ENST00000637161.1:c.2677A>T	ENSP00000490328.1:p.Ile893Phe
ENST00000637261.1:c.2810A>T	ENSP00000490815.1:n.2810A>T
ENST00000637891.1:c.664A>T	ENSP00000490907.1:p.Ile222Phe
ENST00000460843.5:c.2770A>T	ENSP00000417980.1:p.Ile924Phe
ENST00000462942.3:c.1627A>T	ENSP00000436107.1:p.Ile543Phe
ENST00000486164.5:c.457A>T
ENST00000488242.2:n.296A>T
NM_024757.4:c.2770A>T	NP_079033.4:p.Ile924Phe
XM_005266105.3:c.2761A>T	XP_005266162.1:p.Ile921Phe
XM_005266110.1:c.2677A>T	XP_005266167.1:p.Ile893Phe
XM_006717288.2:c.2752A>T	XP_006717351.1:p.Ile918Phe
XM_011519021.1:c.2779A>T	XP_011517323.1:p.Ile927Phe
XM_011519022.1:c.2776A>T	XP_011517324.1:p.Ile926Phe
XM_011519023.1:c.2758A>T	XP_011517325.1:p.Ile920Phe
XM_011519024.1:c.2701A>T	XP_011517326.1:p.Ile901Phe
XM_011519025.1:c.2677A>T	XP_011517327.1:p.Ile893Phe
XM_011519026.1:c.2635A>T	XP_011517328.1:p.Ile879Phe
XM_011519029.1:c.1201A>T	XP_011517331.1:p.Ile401Phe
XM_011519030.1:c.553A>T	XP_011517332.1:p.Ile185Phe
XM_011519031.1:c.340A>T	XP_011517333.1:p.Ile114Phe
XM_011519032.1:c.340A>T	XP_011517334.1:p.Ile114Phe
XM_011519033.1:c.2614A>T	XP_011517335.1:p.Ile872Phe
NM_001354263.1:c.2749A>T	NP_001341192.1:p.Ile917Phe
XM_005266105.5:c.2761A>T	XP_005266162.1:p.Ile921Phe
XM_011519021.3:c.2779A>T	XP_011517323.1:p.Ile927Phe
XM_011519022.3:c.2776A>T	XP_011517324.1:p.Ile926Phe
XM_011519023.3:c.2758A>T	XP_011517325.1:p.Ile920Phe
XM_011519029.3:c.1201A>T	XP_011517331.1:p.Ile401Phe
XM_011519030.3:c.553A>T	XP_011517332.1:p.Ile185Phe
XM_017015134.1:c.2755A>T	XP_016870623.1:p.Ile919Phe
XM_017015136.2:c.2671A>T	XP_016870625.1:p.Ile891Phe
XM_017015137.1:c.2656A>T	XP_016870626.1:p.Ile886Phe
XM_017015138.1:c.2656A>T	XP_016870627.1:p.Ile886Phe
XM_024447674.1:c.2599A>T	XP_024303442.1:p.Ile867Phe
XM_024447675.1:c.2533A>T	XP_024303443.1:p.Ile845Phe
XM_024447676.1:c.1894A>T	XP_024303444.1:p.Ile632Phe
XM_024447677.1:c.1894A>T	XP_024303445.1:p.Ile632Phe
XM_024447680.1:c.2512A>T	XP_024303448.1:p.Ile838Phe
NM_024757.5:c.2770A>T MANE Select	NP_079033.4:p.Ile924Phe
NM_001354263.2:c.2749A>T	NP_001341192.1:p.Ile917Phe