Canonical Allele Identifier: CA143860
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50919
dbSNP Id: rs397509391

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154602C>A , CM000681.2:g.10154602C>A GRCh38
NC_000019.9:g.10265278C>A , CM000681.1:g.10265278C>A GRCh37
NC_000019.8:g.10126278C>A NCBI36
NG_028016.3:g.81685G>T , LRG_362:g.81685G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.1816G>T MANE Select ENSP00000352516.3:p.Val606Phe
ENST00000676604.1:n.1428G>T
ENST00000676610.1:c.1768G>T ENSP00000504236.1:p.Val590Phe
ENST00000676820.1:n.1824G>T
ENST00000676868.1:n.2452G>T
ENST00000677013.1:c.*1458G>T ENSP00000503135.1:n.*1458G>T
ENST00000677250.1:c.*888G>T ENSP00000502894.1:n.*888G>T
ENST00000677616.1:c.1459G>T ENSP00000503055.1:p.Val487Phe
ENST00000677634.1:c.1768G>T ENSP00000504246.1:p.Val590Phe
ENST00000677685.1:c.*993G>T ENSP00000503407.1:n.*993G>T
ENST00000677783.1:n.2238G>T
ENST00000677946.1:c.1768G>T ENSP00000504202.1:p.Val590Phe
ENST00000678024.1:n.1911G>T
ENST00000678694.1:n.1089G>T
ENST00000678804.1:c.1768G>T ENSP00000503853.1:p.Val590Phe
ENST00000679103.1:c.1768G>T ENSP00000503151.1:p.Val590Phe
ENST00000679313.1:c.1768G>T ENSP00000504512.1:p.Val590Phe
ENST00000340748.8:c.1768G>T ENSP00000345739.3:p.Val590Phe
ENST00000359526.8:c.1816G>T ENSP00000352516.3:p.Val606Phe
ENST00000540357.5:c.760G>T ENSP00000440457.2:p.Val254Phe
ENST00000586799.1:c.202G>T
ENST00000592705.5:c.*1506G>T ENSP00000466657.1:n.*1506G>T
NM_001130823.1:c.1816G>T , LRG_362t1:c.1816G>T NP_001124295.1:p.Val606Phe
NM_001379.2:c.1768G>T NP_001370.1:p.Val590Phe
XM_011527772.1:c.1816G>T XP_011526074.1:p.Val606Phe
XM_011527773.1:c.1768G>T XP_011526075.1:p.Val590Phe
XM_011527774.1:c.1405G>T XP_011526076.1:p.Val469Phe
NM_001130823.2:c.1816G>T NP_001124295.1:p.Val606Phe
NM_001318730.1:c.1768G>T NP_001305659.1:p.Val590Phe
NM_001318731.1:c.1453G>T NP_001305660.1:p.Val485Phe
NM_001379.3:c.1768G>T NP_001370.1:p.Val590Phe
NM_001130823.3:c.1816G>T MANE Select NP_001124295.1:p.Val606Phe
NM_001318730.2:c.1768G>T NP_001305659.1:p.Val590Phe
NM_001318731.2:c.1453G>T NP_001305660.1:p.Val485Phe
NM_001379.4:c.1768G>T NP_001370.1:p.Val590Phe