Canonical Allele Identifier: CA9187695
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 438391
dbSNP Id: rs757460628
COSMIC: COSM990437

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10140184C>T , CM000681.2:g.10140184C>T GRCh38
NC_000019.9:g.10250860C>T , CM000681.1:g.10250860C>T GRCh37
NC_000019.8:g.10111860C>T NCBI36
NG_028016.3:g.96103G>A , LRG_362:g.96103G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.3668G>A MANE Select ENSP00000352516.3:p.Arg1223His
ENST00000586667.2:n.1703G>A
ENST00000589351.6:n.1556G>A
ENST00000676604.1:n.3280G>A
ENST00000676610.1:c.3620G>A ENSP00000504236.1:p.Arg1207His
ENST00000676820.1:n.4514G>A
ENST00000676868.1:n.4304G>A
ENST00000677013.1:c.*3310G>A ENSP00000503135.1:n.*3310G>A
ENST00000677250.1:c.*2740G>A ENSP00000502894.1:n.*2740G>A
ENST00000677616.1:c.3311G>A ENSP00000503055.1:p.Arg1104His
ENST00000677634.1:c.*223G>A ENSP00000504246.1:n.*223G>A
ENST00000677685.1:c.*2845G>A ENSP00000503407.1:n.*2845G>A
ENST00000677783.1:n.4928G>A
ENST00000677946.1:c.3620G>A ENSP00000504202.1:p.Arg1207His
ENST00000678024.1:n.4601G>A
ENST00000678107.1:n.435G>A
ENST00000678239.1:n.284G>A
ENST00000678647.1:n.1753G>A
ENST00000678694.1:n.2941G>A
ENST00000678804.1:c.3620G>A ENSP00000503853.1:p.Arg1207His
ENST00000678957.1:n.1104G>A
ENST00000679100.1:n.1807G>A
ENST00000679103.1:c.3620G>A ENSP00000503151.1:p.Arg1207His
ENST00000679313.1:c.3620G>A ENSP00000504512.1:p.Arg1207His
ENST00000340748.8:c.3620G>A ENSP00000345739.3:p.Arg1207His
ENST00000359526.8:c.3668G>A ENSP00000352516.3:p.Arg1223His
ENST00000540357.5:c.2612G>A ENSP00000440457.2:p.Arg871His
ENST00000586588.5:n.1541G>A
ENST00000587197.1:n.12G>A
ENST00000589538.5:n.544-139G>A
ENST00000592705.5:c.*3358G>A ENSP00000466657.1:n.*3358G>A
NM_001130823.1:c.3668G>A , LRG_362t1:c.3668G>A NP_001124295.1:p.Arg1223His
NM_001379.2:c.3620G>A NP_001370.1:p.Arg1207His
XM_011527772.1:c.3668G>A XP_011526074.1:p.Arg1223His
XM_011527773.1:c.3620G>A XP_011526075.1:p.Arg1207His
XM_011527774.1:c.3257G>A XP_011526076.1:p.Arg1086His
NM_001130823.2:c.3668G>A NP_001124295.1:p.Arg1223His
NM_001318730.1:c.3620G>A NP_001305659.1:p.Arg1207His
NM_001318731.1:c.3305G>A NP_001305660.1:p.Arg1102His
NM_001379.3:c.3620G>A NP_001370.1:p.Arg1207His
NM_001130823.3:c.3668G>A MANE Select NP_001124295.1:p.Arg1223His
NM_001318730.2:c.3620G>A NP_001305659.1:p.Arg1207His
NM_001318731.2:c.3305G>A NP_001305660.1:p.Arg1102His
NM_001379.4:c.3620G>A NP_001370.1:p.Arg1207His