Canonical Allele Identifier: CA5375156

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813412T>A , CM000671.2:g.137813412T>A	GRCh38
NC_000009.11:g.140707864T>A , CM000671.1:g.140707864T>A	GRCh37
NC_000009.10:g.139827685T>A	NCBI36
NG_011776.1:g.199421T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3062T>A MANE Select	NP_079033.4:p.Ile1021Asn
ENST00000460843.6:c.3062T>A MANE Select	ENSP00000417980.1:p.Ile1021Asn
NM_001354263.1:c.3041T>A	NP_001341192.1:p.Ile1014Asn
NM_001354263.2:c.3041T>A	NP_001341192.1:p.Ile1014Asn
NM_024757.4:c.3062T>A	NP_079033.4:p.Ile1021Asn
ENST00000460843.5:c.3062T>A	ENSP00000417980.1:p.Ile1021Asn
ENST00000462942.3:c.1919T>A	ENSP00000436107.1:p.Ile640Asn
ENST00000486164.5:c.749T>A
ENST00000488242.2:n.588T>A
ENST00000637161.1:c.2969T>A	ENSP00000490328.1:p.Ile990Asn
ENST00000637261.1:c.3102T>A	ENSP00000490815.1:n.3102T>A
ENST00000637891.1:c.956T>A	ENSP00000490907.1:p.Ile319Asn
XM_005266105.3:c.3053T>A	XP_005266162.1:p.Ile1018Asn
XM_005266105.5:c.3053T>A	XP_005266162.1:p.Ile1018Asn
XM_005266110.1:c.2969T>A	XP_005266167.1:p.Ile990Asn
XM_006717288.2:c.3044T>A	XP_006717351.1:p.Ile1015Asn
XM_011519021.1:c.3071T>A	XP_011517323.1:p.Ile1024Asn
XM_011519021.3:c.3071T>A	XP_011517323.1:p.Ile1024Asn
XM_011519022.1:c.3068T>A	XP_011517324.1:p.Ile1023Asn
XM_011519022.3:c.3068T>A	XP_011517324.1:p.Ile1023Asn
XM_011519023.1:c.3050T>A	XP_011517325.1:p.Ile1017Asn
XM_011519023.3:c.3050T>A	XP_011517325.1:p.Ile1017Asn
XM_011519024.1:c.2993T>A	XP_011517326.1:p.Ile998Asn
XM_011519025.1:c.2969T>A	XP_011517327.1:p.Ile990Asn
XM_011519026.1:c.2927T>A	XP_011517328.1:p.Ile976Asn
XM_011519029.1:c.1493T>A	XP_011517331.1:p.Ile498Asn
XM_011519029.3:c.1493T>A	XP_011517331.1:p.Ile498Asn
XM_011519030.1:c.845T>A	XP_011517332.1:p.Ile282Asn
XM_011519030.3:c.845T>A	XP_011517332.1:p.Ile282Asn
XM_011519031.1:c.632T>A	XP_011517333.1:p.Ile211Asn
XM_011519032.1:c.632T>A	XP_011517334.1:p.Ile211Asn
XM_011519033.1:c.2906T>A	XP_011517335.1:p.Ile969Asn
XM_017015134.1:c.3047T>A	XP_016870623.1:p.Ile1016Asn
XM_017015136.2:c.2963T>A	XP_016870625.1:p.Ile988Asn
XM_017015137.1:c.2948T>A	XP_016870626.1:p.Ile983Asn
XM_017015138.1:c.2948T>A	XP_016870627.1:p.Ile983Asn
XM_024447674.1:c.2891T>A	XP_024303442.1:p.Ile964Asn
XM_024447675.1:c.2825T>A	XP_024303443.1:p.Ile942Asn
XM_024447676.1:c.2186T>A	XP_024303444.1:p.Ile729Asn
XM_024447677.1:c.2186T>A	XP_024303445.1:p.Ile729Asn
XM_024447680.1:c.2804T>A	XP_024303448.1:p.Ile935Asn