Canonical Allele Identifier: CA375772967

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137817457C>A , CM000671.2:g.137817457C>A	GRCh38
NC_000009.11:g.140711909C>A , CM000671.1:g.140711909C>A	GRCh37
NC_000009.10:g.139831730C>A	NCBI36
NG_011776.1:g.203466C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3393C>A MANE Select	NP_079033.4:p.Tyr1131Ter
ENST00000460843.6:c.3393C>A MANE Select	ENSP00000417980.1:p.Tyr1131Ter
NM_001354263.1:c.3372C>A	NP_001341192.1:p.Tyr1124Ter
NM_001354263.2:c.3372C>A	NP_001341192.1:p.Tyr1124Ter
NM_024757.4:c.3393C>A	NP_079033.4:p.Tyr1131Ter
ENST00000460843.5:c.3393C>A	ENSP00000417980.1:p.Tyr1131Ter
ENST00000462942.3:c.2250C>A	ENSP00000436107.1:p.Tyr750Ter
ENST00000475564.5:n.1117C>A
ENST00000494249.5:n.746C>A
ENST00000637161.1:c.3300C>A	ENSP00000490328.1:p.Tyr1100Ter
ENST00000637261.1:c.3433C>A	ENSP00000490815.1:n.3433C>A
ENST00000637748.1:n.374C>A
ENST00000637784.1:n.46C>A
ENST00000637891.1:c.1467C>A	ENSP00000490907.1:n.1467C>A
XM_005266105.3:c.3384C>A	XP_005266162.1:p.Tyr1128Ter
XM_005266105.5:c.3384C>A	XP_005266162.1:p.Tyr1128Ter
XM_005266110.1:c.3300C>A	XP_005266167.1:p.Tyr1100Ter
XM_006717288.2:c.3375C>A	XP_006717351.1:p.Tyr1125Ter
XM_011519021.1:c.3402C>A	XP_011517323.1:p.Tyr1134Ter
XM_011519021.3:c.3402C>A	XP_011517323.1:p.Tyr1134Ter
XM_011519022.1:c.3399C>A	XP_011517324.1:p.Tyr1133Ter
XM_011519022.3:c.3399C>A	XP_011517324.1:p.Tyr1133Ter
XM_011519023.1:c.3381C>A	XP_011517325.1:p.Tyr1127Ter
XM_011519023.3:c.3381C>A	XP_011517325.1:p.Tyr1127Ter
XM_011519024.1:c.3324C>A	XP_011517326.1:p.Tyr1108Ter
XM_011519025.1:c.3300C>A	XP_011517327.1:p.Tyr1100Ter
XM_011519026.1:c.3258C>A	XP_011517328.1:p.Tyr1086Ter
XM_011519029.1:c.1824C>A	XP_011517331.1:p.Tyr608Ter
XM_011519029.3:c.1824C>A	XP_011517331.1:p.Tyr608Ter
XM_011519030.1:c.1176C>A	XP_011517332.1:p.Tyr392Ter
XM_011519030.3:c.1176C>A	XP_011517332.1:p.Tyr392Ter
XM_011519031.1:c.963C>A	XP_011517333.1:p.Tyr321Ter
XM_011519032.1:c.963C>A	XP_011517334.1:p.Tyr321Ter
XM_011519033.1:c.3237C>A	XP_011517335.1:p.Tyr1079Ter
XM_017015134.1:c.3378C>A	XP_016870623.1:p.Tyr1126Ter
XM_017015136.2:c.3294C>A	XP_016870625.1:p.Tyr1098Ter
XM_017015137.1:c.3279C>A	XP_016870626.1:p.Tyr1093Ter
XM_017015138.1:c.3279C>A	XP_016870627.1:p.Tyr1093Ter
XM_024447674.1:c.3222C>A	XP_024303442.1:p.Tyr1074Ter
XM_024447675.1:c.3156C>A	XP_024303443.1:p.Tyr1052Ter
XM_024447676.1:c.2517C>A	XP_024303444.1:p.Tyr839Ter
XM_024447677.1:c.2517C>A	XP_024303445.1:p.Tyr839Ter
XM_024447680.1:c.3135C>A	XP_024303448.1:p.Tyr1045Ter
XR_930459.1:n.5297-2895G>T