Canonical Allele Identifier: CA375772076

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137728442C>T , CM000671.2:g.137728442C>T	GRCh38
NC_000009.11:g.140622894C>T , CM000671.1:g.140622894C>T	GRCh37
NC_000009.10:g.139742715C>T	NCBI36
NG_011776.1:g.114451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.736C>T MANE Select	ENSP00000417980.1:p.Arg246Ter
ENST00000629335.2:c.736C>T	ENSP00000490056.1:p.Arg246Ter
ENST00000636027.1:c.643C>T	ENSP00000489961.1:p.Arg215Ter
ENST00000637161.1:c.643C>T	ENSP00000490328.1:p.Arg215Ter
ENST00000637261.1:c.712C>T	ENSP00000490815.1:p.Arg238Ter
ENST00000637977.1:c.681C>T
ENST00000638071.1:c.441C>T
ENST00000371394.6:c.*471C>T	ENSP00000485945.1:n.*471C>T
ENST00000460843.5:c.736C>T	ENSP00000417980.1:p.Arg246Ter
ENST00000462484.5:c.736C>T	ENSP00000417328.1:p.Arg246Ter
ENST00000626066.2:c.660C>T
NM_001145527.1:c.736C>T	NP_001138999.1:p.Arg246Ter
NM_024757.4:c.736C>T	NP_079033.4:p.Arg246Ter
XM_005266105.3:c.727C>T	XP_005266162.1:p.Arg243Ter
XM_005266110.1:c.643C>T	XP_005266167.1:p.Arg215Ter
XM_006717288.2:c.718C>T	XP_006717351.1:p.Arg240Ter
XM_011519021.1:c.745C>T	XP_011517323.1:p.Arg249Ter
XM_011519022.1:c.742C>T	XP_011517324.1:p.Arg248Ter
XM_011519023.1:c.745C>T	XP_011517325.1:p.Arg249Ter
XM_011519024.1:c.745C>T	XP_011517326.1:p.Arg249Ter
XM_011519025.1:c.643C>T	XP_011517327.1:p.Arg215Ter
XM_011519026.1:c.745C>T	XP_011517328.1:p.Arg249Ter
XM_011519027.1:c.745C>T	XP_011517329.1:p.Arg249Ter
XM_011519028.1:c.745C>T	XP_011517330.1:p.Arg249Ter
XM_011519033.1:c.745C>T	XP_011517335.1:p.Arg249Ter
NM_001354259.1:c.643C>T	NP_001341188.1:p.Arg215Ter
NM_001354263.1:c.736C>T	NP_001341192.1:p.Arg246Ter
NM_001354611.1:c.736C>T	NP_001341540.1:p.Arg246Ter
NM_001354612.1:c.643C>T	NP_001341541.1:p.Arg215Ter
XM_005266105.5:c.727C>T	XP_005266162.1:p.Arg243Ter
XM_011519021.3:c.745C>T	XP_011517323.1:p.Arg249Ter
XM_011519022.3:c.742C>T	XP_011517324.1:p.Arg248Ter
XM_011519023.3:c.745C>T	XP_011517325.1:p.Arg249Ter
XM_017015134.1:c.742C>T	XP_016870623.1:p.Arg248Ter
XM_017015136.2:c.736C>T	XP_016870625.1:p.Arg246Ter
XM_017015137.1:c.643C>T	XP_016870626.1:p.Arg215Ter
XM_017015138.1:c.643C>T	XP_016870627.1:p.Arg215Ter
XM_024447674.1:c.643C>T	XP_024303442.1:p.Arg215Ter
XM_024447675.1:c.643C>T	XP_024303443.1:p.Arg215Ter
XM_024447678.1:c.643C>T	XP_024303446.1:p.Arg215Ter
XM_024447679.1:c.643C>T	XP_024303447.1:p.Arg215Ter
XM_024447680.1:c.643C>T	XP_024303448.1:p.Arg215Ter
NM_024757.5:c.736C>T MANE Select	NP_079033.4:p.Arg246Ter
NM_001145527.2:c.736C>T	NP_001138999.1:p.Arg246Ter
NM_001354259.2:c.643C>T	NP_001341188.1:p.Arg215Ter
NM_001354263.2:c.736C>T	NP_001341192.1:p.Arg246Ter
NM_001354611.2:c.736C>T	NP_001341540.1:p.Arg246Ter
NM_001354612.2:c.643C>T	NP_001341541.1:p.Arg215Ter