Canonical Allele Identifier: CA467877620
Community Standard Title: NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137817523C>T , CM000671.2:g.137817523C>T GRCh38
NC_000009.11:g.140711975C>T , CM000671.1:g.140711975C>T GRCh37
NC_000009.10:g.139831796C>T NCBI36
NG_011776.1:g.203532C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3459C>T MANE Select NP_079033.4:p.Cys1153=
ENST00000460843.6:c.3459C>T MANE Select ENSP00000417980.1:p.Cys1153=
NM_001354263.1:c.3438C>T NP_001341192.1:p.Cys1146=
NM_001354263.2:c.3438C>T NP_001341192.1:p.Cys1146=
NM_024757.4:c.3459C>T NP_079033.4:p.Cys1153=
ENST00000460843.5:c.3459C>T ENSP00000417980.1:p.Cys1153=
ENST00000462942.3:c.2316C>T ENSP00000436107.1:p.Cys772=
ENST00000475564.5:n.1183C>T
ENST00000494249.5:n.812C>T
ENST00000637161.1:c.3366C>T ENSP00000490328.1:p.Cys1122=
ENST00000637261.1:c.3499C>T ENSP00000490815.1:n.3499C>T
ENST00000637748.1:n.440C>T
ENST00000637891.1:c.1533C>T ENSP00000490907.1:n.1533C>T
XM_005266105.3:c.3450C>T XP_005266162.1:p.Cys1150=
XM_005266105.5:c.3450C>T XP_005266162.1:p.Cys1150=
XM_005266110.1:c.3366C>T XP_005266167.1:p.Cys1122=
XM_006717288.2:c.3441C>T XP_006717351.1:p.Cys1147=
XM_011519021.1:c.3468C>T XP_011517323.1:p.Cys1156=
XM_011519021.3:c.3468C>T XP_011517323.1:p.Cys1156=
XM_011519022.1:c.3465C>T XP_011517324.1:p.Cys1155=
XM_011519022.3:c.3465C>T XP_011517324.1:p.Cys1155=
XM_011519023.1:c.3447C>T XP_011517325.1:p.Cys1149=
XM_011519023.3:c.3447C>T XP_011517325.1:p.Cys1149=
XM_011519024.1:c.3390C>T XP_011517326.1:p.Cys1130=
XM_011519025.1:c.3366C>T XP_011517327.1:p.Cys1122=
XM_011519026.1:c.3324C>T XP_011517328.1:p.Cys1108=
XM_011519029.1:c.1890C>T XP_011517331.1:p.Cys630=
XM_011519029.3:c.1890C>T XP_011517331.1:p.Cys630=
XM_011519030.1:c.1242C>T XP_011517332.1:p.Cys414=
XM_011519030.3:c.1242C>T XP_011517332.1:p.Cys414=
XM_011519031.1:c.1029C>T XP_011517333.1:p.Cys343=
XM_011519032.1:c.1029C>T XP_011517334.1:p.Cys343=
XM_011519033.1:c.3303C>T XP_011517335.1:p.Cys1101=
XM_017015134.1:c.3444C>T XP_016870623.1:p.Cys1148=
XM_017015136.2:c.3360C>T XP_016870625.1:p.Cys1120=
XM_017015137.1:c.3345C>T XP_016870626.1:p.Cys1115=
XM_017015138.1:c.3345C>T XP_016870627.1:p.Cys1115=
XM_024447674.1:c.3288C>T XP_024303442.1:p.Cys1096=
XM_024447675.1:c.3222C>T XP_024303443.1:p.Cys1074=
XM_024447676.1:c.2583C>T XP_024303444.1:p.Cys861=
XM_024447677.1:c.2583C>T XP_024303445.1:p.Cys861=
XM_024447680.1:c.3201C>T XP_024303448.1:p.Cys1067=
XR_930459.1:n.5297-2961G>A