Canonical Allele Identifier: CA375793625

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707573C>G (hg19) ; chr9:g.137813121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813121C>G , CM000671.2:g.137813121C>G	GRCh38
NC_000009.11:g.140707573C>G , CM000671.1:g.140707573C>G	GRCh37
NC_000009.10:g.139827394C>G	NCBI36
NG_011776.1:g.199130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2983C>G MANE Select	ENSP00000417980.1:p.Leu995Val
ENST00000636027.1:c.2869C>G	ENSP00000489961.1:p.Leu957Val
ENST00000637161.1:c.2890C>G	ENSP00000490328.1:p.Leu964Val
ENST00000637261.1:c.3023C>G	ENSP00000490815.1:n.3023C>G
ENST00000637891.1:c.877C>G	ENSP00000490907.1:p.Leu293Val
ENST00000460843.5:c.2983C>G	ENSP00000417980.1:p.Leu995Val
ENST00000462942.3:c.1840C>G	ENSP00000436107.1:p.Leu614Val
ENST00000486164.5:c.670C>G
ENST00000488242.2:n.509C>G
NM_024757.4:c.2983C>G	NP_079033.4:p.Leu995Val
XM_005266105.3:c.2974C>G	XP_005266162.1:p.Leu992Val
XM_005266110.1:c.2890C>G	XP_005266167.1:p.Leu964Val
XM_006717288.2:c.2965C>G	XP_006717351.1:p.Leu989Val
XM_011519021.1:c.2992C>G	XP_011517323.1:p.Leu998Val
XM_011519022.1:c.2989C>G	XP_011517324.1:p.Leu997Val
XM_011519023.1:c.2971C>G	XP_011517325.1:p.Leu991Val
XM_011519024.1:c.2914C>G	XP_011517326.1:p.Leu972Val
XM_011519025.1:c.2890C>G	XP_011517327.1:p.Leu964Val
XM_011519026.1:c.2848C>G	XP_011517328.1:p.Leu950Val
XM_011519029.1:c.1414C>G	XP_011517331.1:p.Leu472Val
XM_011519030.1:c.766C>G	XP_011517332.1:p.Leu256Val
XM_011519031.1:c.553C>G	XP_011517333.1:p.Leu185Val
XM_011519032.1:c.553C>G	XP_011517334.1:p.Leu185Val
XM_011519033.1:c.2827C>G	XP_011517335.1:p.Leu943Val
NM_001354263.1:c.2962C>G	NP_001341192.1:p.Leu988Val
XM_005266105.5:c.2974C>G	XP_005266162.1:p.Leu992Val
XM_011519021.3:c.2992C>G	XP_011517323.1:p.Leu998Val
XM_011519022.3:c.2989C>G	XP_011517324.1:p.Leu997Val
XM_011519023.3:c.2971C>G	XP_011517325.1:p.Leu991Val
XM_011519029.3:c.1414C>G	XP_011517331.1:p.Leu472Val
XM_011519030.3:c.766C>G	XP_011517332.1:p.Leu256Val
XM_017015134.1:c.2968C>G	XP_016870623.1:p.Leu990Val
XM_017015136.2:c.2884C>G	XP_016870625.1:p.Leu962Val
XM_017015137.1:c.2869C>G	XP_016870626.1:p.Leu957Val
XM_017015138.1:c.2869C>G	XP_016870627.1:p.Leu957Val
XM_024447674.1:c.2812C>G	XP_024303442.1:p.Leu938Val
XM_024447675.1:c.2746C>G	XP_024303443.1:p.Leu916Val
XM_024447676.1:c.2107C>G	XP_024303444.1:p.Leu703Val
XM_024447677.1:c.2107C>G	XP_024303445.1:p.Leu703Val
XM_024447680.1:c.2725C>G	XP_024303448.1:p.Leu909Val
NM_024757.5:c.2983C>G MANE Select	NP_079033.4:p.Leu995Val
NM_001354263.2:c.2962C>G	NP_001341192.1:p.Leu988Val