Canonical Allele Identifier: CA5375301
Community Standard Title: NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137817462C>T , CM000671.2:g.137817462C>T GRCh38
NC_000009.11:g.140711914C>T , CM000671.1:g.140711914C>T GRCh37
NC_000009.10:g.139831735C>T NCBI36
NG_011776.1:g.203471C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3398C>T MANE Select NP_079033.4:p.Thr1133Met
ENST00000460843.6:c.3398C>T MANE Select ENSP00000417980.1:p.Thr1133Met
NM_001354263.1:c.3377C>T NP_001341192.1:p.Thr1126Met
NM_001354263.2:c.3377C>T NP_001341192.1:p.Thr1126Met
NM_024757.4:c.3398C>T NP_079033.4:p.Thr1133Met
ENST00000460843.5:c.3398C>T ENSP00000417980.1:p.Thr1133Met
ENST00000462942.3:c.2255C>T ENSP00000436107.1:p.Thr752Met
ENST00000475564.5:n.1122C>T
ENST00000494249.5:n.751C>T
ENST00000637161.1:c.3305C>T ENSP00000490328.1:p.Thr1102Met
ENST00000637261.1:c.3438C>T ENSP00000490815.1:n.3438C>T
ENST00000637748.1:n.379C>T
ENST00000637784.1:n.51C>T
ENST00000637891.1:c.1472C>T ENSP00000490907.1:n.1472C>T
XM_005266105.3:c.3389C>T XP_005266162.1:p.Thr1130Met
XM_005266105.5:c.3389C>T XP_005266162.1:p.Thr1130Met
XM_005266110.1:c.3305C>T XP_005266167.1:p.Thr1102Met
XM_006717288.2:c.3380C>T XP_006717351.1:p.Thr1127Met
XM_011519021.1:c.3407C>T XP_011517323.1:p.Thr1136Met
XM_011519021.3:c.3407C>T XP_011517323.1:p.Thr1136Met
XM_011519022.1:c.3404C>T XP_011517324.1:p.Thr1135Met
XM_011519022.3:c.3404C>T XP_011517324.1:p.Thr1135Met
XM_011519023.1:c.3386C>T XP_011517325.1:p.Thr1129Met
XM_011519023.3:c.3386C>T XP_011517325.1:p.Thr1129Met
XM_011519024.1:c.3329C>T XP_011517326.1:p.Thr1110Met
XM_011519025.1:c.3305C>T XP_011517327.1:p.Thr1102Met
XM_011519026.1:c.3263C>T XP_011517328.1:p.Thr1088Met
XM_011519029.1:c.1829C>T XP_011517331.1:p.Thr610Met
XM_011519029.3:c.1829C>T XP_011517331.1:p.Thr610Met
XM_011519030.1:c.1181C>T XP_011517332.1:p.Thr394Met
XM_011519030.3:c.1181C>T XP_011517332.1:p.Thr394Met
XM_011519031.1:c.968C>T XP_011517333.1:p.Thr323Met
XM_011519032.1:c.968C>T XP_011517334.1:p.Thr323Met
XM_011519033.1:c.3242C>T XP_011517335.1:p.Thr1081Met
XM_017015134.1:c.3383C>T XP_016870623.1:p.Thr1128Met
XM_017015136.2:c.3299C>T XP_016870625.1:p.Thr1100Met
XM_017015137.1:c.3284C>T XP_016870626.1:p.Thr1095Met
XM_017015138.1:c.3284C>T XP_016870627.1:p.Thr1095Met
XM_024447674.1:c.3227C>T XP_024303442.1:p.Thr1076Met
XM_024447675.1:c.3161C>T XP_024303443.1:p.Thr1054Met
XM_024447676.1:c.2522C>T XP_024303444.1:p.Thr841Met
XM_024447677.1:c.2522C>T XP_024303445.1:p.Thr841Met
XM_024447680.1:c.3140C>T XP_024303448.1:p.Thr1047Met
XR_930459.1:n.5297-2900G>A