Canonical Allele Identifier: CA375796731
Community Standard Title: NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137816031T>G , CM000671.2:g.137816031T>G GRCh38
NC_000009.11:g.140710483T>G , CM000671.1:g.140710483T>G GRCh37
NC_000009.10:g.139830304T>G NCBI36
NG_011776.1:g.202040T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3343T>G MANE Select NP_079033.4:p.Cys1115Gly
ENST00000460843.6:c.3343T>G MANE Select ENSP00000417980.1:p.Cys1115Gly
NM_001354263.1:c.3322T>G NP_001341192.1:p.Cys1108Gly
NM_001354263.2:c.3322T>G NP_001341192.1:p.Cys1108Gly
NM_024757.4:c.3343T>G NP_079033.4:p.Cys1115Gly
ENST00000460843.5:c.3343T>G ENSP00000417980.1:p.Cys1115Gly
ENST00000462942.3:c.2200T>G ENSP00000436107.1:p.Cys734Gly
ENST00000494249.5:n.696T>G
ENST00000635741.1:n.32T>G
ENST00000637161.1:c.3250T>G ENSP00000490328.1:p.Cys1084Gly
ENST00000637261.1:c.3383T>G ENSP00000490815.1:n.3383T>G
ENST00000637748.1:n.280T>G
ENST00000637891.1:c.1417T>G ENSP00000490907.1:n.1417T>G
XM_005266105.3:c.3334T>G XP_005266162.1:p.Cys1112Gly
XM_005266105.5:c.3334T>G XP_005266162.1:p.Cys1112Gly
XM_005266110.1:c.3250T>G XP_005266167.1:p.Cys1084Gly
XM_006717288.2:c.3325T>G XP_006717351.1:p.Cys1109Gly
XM_011519021.1:c.3352T>G XP_011517323.1:p.Cys1118Gly
XM_011519021.3:c.3352T>G XP_011517323.1:p.Cys1118Gly
XM_011519022.1:c.3349T>G XP_011517324.1:p.Cys1117Gly
XM_011519022.3:c.3349T>G XP_011517324.1:p.Cys1117Gly
XM_011519023.1:c.3331T>G XP_011517325.1:p.Cys1111Gly
XM_011519023.3:c.3331T>G XP_011517325.1:p.Cys1111Gly
XM_011519024.1:c.3274T>G XP_011517326.1:p.Cys1092Gly
XM_011519025.1:c.3250T>G XP_011517327.1:p.Cys1084Gly
XM_011519026.1:c.3208T>G XP_011517328.1:p.Cys1070Gly
XM_011519029.1:c.1774T>G XP_011517331.1:p.Cys592Gly
XM_011519029.3:c.1774T>G XP_011517331.1:p.Cys592Gly
XM_011519030.1:c.1126T>G XP_011517332.1:p.Cys376Gly
XM_011519030.3:c.1126T>G XP_011517332.1:p.Cys376Gly
XM_011519031.1:c.913T>G XP_011517333.1:p.Cys305Gly
XM_011519032.1:c.913T>G XP_011517334.1:p.Cys305Gly
XM_011519033.1:c.3187T>G XP_011517335.1:p.Cys1063Gly
XM_017015134.1:c.3328T>G XP_016870623.1:p.Cys1110Gly
XM_017015136.2:c.3244T>G XP_016870625.1:p.Cys1082Gly
XM_017015137.1:c.3229T>G XP_016870626.1:p.Cys1077Gly
XM_017015138.1:c.3229T>G XP_016870627.1:p.Cys1077Gly
XM_024447674.1:c.3172T>G XP_024303442.1:p.Cys1058Gly
XM_024447675.1:c.3106T>G XP_024303443.1:p.Cys1036Gly
XM_024447676.1:c.2467T>G XP_024303444.1:p.Cys823Gly
XM_024447677.1:c.2467T>G XP_024303445.1:p.Cys823Gly
XM_024447680.1:c.3085T>G XP_024303448.1:p.Cys1029Gly
XR_930459.1:n.5297-1469A>C