Canonical Allele Identifier: CA9187474
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384796
dbSNP Id: rs145860233

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10136178G>A , CM000681.2:g.10136178G>A GRCh38
NC_000019.9:g.10246854G>A , CM000681.1:g.10246854G>A GRCh37
NC_000019.8:g.10107854G>A NCBI36
NG_028016.3:g.100109C>T , LRG_362:g.100109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359526.9:c.4599C>T MANE Select ENSP00000352516.3:p.Leu1533=
ENST00000586667.2:n.2634C>T
ENST00000589351.6:n.3785C>T
ENST00000676604.1:n.4211C>T
ENST00000676610.1:c.4551C>T ENSP00000504236.1:p.Leu1517=
ENST00000676820.1:n.5445C>T
ENST00000676868.1:n.5235C>T
ENST00000677013.1:c.*4241C>T ENSP00000503135.1:n.*4241C>T
ENST00000677038.1:n.1147C>T
ENST00000677250.1:c.*3671C>T ENSP00000502894.1:n.*3671C>T
ENST00000677616.1:c.*821C>T ENSP00000503055.1:n.*821C>T
ENST00000677634.1:c.*1154C>T ENSP00000504246.1:n.*1154C>T
ENST00000677685.1:c.*3776C>T ENSP00000503407.1:n.*3776C>T
ENST00000677783.1:n.5859C>T
ENST00000677946.1:c.4551C>T ENSP00000504202.1:p.Leu1517=
ENST00000678024.1:n.5532C>T
ENST00000678107.1:n.1594C>T
ENST00000678239.1:n.1452C>T
ENST00000678647.1:n.2693C>T
ENST00000678694.1:n.3872C>T
ENST00000678804.1:c.4560C>T ENSP00000503853.1:p.Leu1520=
ENST00000678851.1:n.593C>T
ENST00000678957.1:n.2263C>T
ENST00000679100.1:n.2738C>T
ENST00000679103.1:c.4551C>T ENSP00000503151.1:p.Leu1517=
ENST00000679313.1:c.4560C>T ENSP00000504512.1:p.Leu1520=
ENST00000340748.8:c.4551C>T ENSP00000345739.3:p.Leu1517=
ENST00000359526.8:c.4599C>T ENSP00000352516.3:p.Leu1533=
ENST00000540357.5:c.3543C>T ENSP00000440457.2:p.Leu1181=
ENST00000586588.5:n.2472C>T
ENST00000588913.5:c.878C>T
ENST00000592705.5:c.*4289C>T ENSP00000466657.1:n.*4289C>T
NM_001130823.1:c.4599C>T , LRG_362t1:c.4599C>T NP_001124295.1:p.Leu1533=
NM_001379.2:c.4551C>T NP_001370.1:p.Leu1517=
XM_011527772.1:c.4608C>T XP_011526074.1:p.Leu1536=
XM_011527773.1:c.4560C>T XP_011526075.1:p.Leu1520=
XM_011527774.1:c.4197C>T XP_011526076.1:p.Leu1399=
NM_001130823.2:c.4599C>T NP_001124295.1:p.Leu1533=
NM_001318730.1:c.4560C>T NP_001305659.1:p.Leu1520=
NM_001318731.1:c.4236C>T NP_001305660.1:p.Leu1412=
NM_001379.3:c.4551C>T NP_001370.1:p.Leu1517=
NM_001130823.3:c.4599C>T MANE Select NP_001124295.1:p.Leu1533=
NM_001318730.2:c.4560C>T NP_001305659.1:p.Leu1520=
NM_001318731.2:c.4236C>T NP_001305660.1:p.Leu1412=
NM_001379.4:c.4551C>T NP_001370.1:p.Leu1517=