Canonical Allele Identifier: CA403934326
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1712063
ClinVar RCV Id: RCV002293781

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154589T>C , CM000681.2:g.10154589T>C GRCh38
NC_000019.9:g.10265265T>C , CM000681.1:g.10265265T>C GRCh37
NC_000019.8:g.10126265T>C NCBI36
NG_028016.3:g.81698A>G , LRG_362:g.81698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359526.9:c.1829A>G MANE Select ENSP00000352516.3:p.Gln610Arg
ENST00000676604.1:n.1441A>G
ENST00000676610.1:c.1781A>G ENSP00000504236.1:p.Gln594Arg
ENST00000676820.1:n.1837A>G
ENST00000676868.1:n.2465A>G
ENST00000677013.1:c.*1471A>G ENSP00000503135.1:n.*1471A>G
ENST00000677250.1:c.*901A>G ENSP00000502894.1:n.*901A>G
ENST00000677616.1:c.1472A>G ENSP00000503055.1:p.Gln491Arg
ENST00000677634.1:c.1781A>G ENSP00000504246.1:p.Gln594Arg
ENST00000677685.1:c.*1006A>G ENSP00000503407.1:n.*1006A>G
ENST00000677783.1:n.2251A>G
ENST00000677946.1:c.1781A>G ENSP00000504202.1:p.Gln594Arg
ENST00000678024.1:n.1924A>G
ENST00000678694.1:n.1102A>G
ENST00000678804.1:c.1781A>G ENSP00000503853.1:p.Gln594Arg
ENST00000679103.1:c.1781A>G ENSP00000503151.1:p.Gln594Arg
ENST00000679313.1:c.1781A>G ENSP00000504512.1:p.Gln594Arg
ENST00000340748.8:c.1781A>G ENSP00000345739.3:p.Gln594Arg
ENST00000359526.8:c.1829A>G ENSP00000352516.3:p.Gln610Arg
ENST00000540357.5:c.773A>G ENSP00000440457.2:p.Gln258Arg
ENST00000586799.1:c.215A>G
ENST00000592705.5:c.*1519A>G ENSP00000466657.1:n.*1519A>G
NM_001130823.1:c.1829A>G , LRG_362t1:c.1829A>G NP_001124295.1:p.Gln610Arg
NM_001379.2:c.1781A>G NP_001370.1:p.Gln594Arg
XM_011527772.1:c.1829A>G XP_011526074.1:p.Gln610Arg
XM_011527773.1:c.1781A>G XP_011526075.1:p.Gln594Arg
XM_011527774.1:c.1418A>G XP_011526076.1:p.Gln473Arg
NM_001130823.2:c.1829A>G NP_001124295.1:p.Gln610Arg
NM_001318730.1:c.1781A>G NP_001305659.1:p.Gln594Arg
NM_001318731.1:c.1466A>G NP_001305660.1:p.Gln489Arg
NM_001379.3:c.1781A>G NP_001370.1:p.Gln594Arg
NM_001130823.3:c.1829A>G MANE Select NP_001124295.1:p.Gln610Arg
NM_001318730.2:c.1781A>G NP_001305659.1:p.Gln594Arg
NM_001318731.2:c.1466A>G NP_001305660.1:p.Gln489Arg
NM_001379.4:c.1781A>G NP_001370.1:p.Gln594Arg