Canonical Allele Identifier: CA305171233
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10149925G>A , CM000681.2:g.10149925G>A GRCh38
NC_000019.9:g.10260601G>A , CM000681.1:g.10260601G>A GRCh37
NC_000019.8:g.10121601G>A NCBI36
NG_028016.3:g.86362C>T , LRG_362:g.86362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359526.9:c.2309C>T MANE Select ENSP00000352516.3:p.Ala770Val
ENST00000586667.2:n.344C>T
ENST00000676604.1:n.1921C>T
ENST00000676610.1:c.2261C>T ENSP00000504236.1:p.Ala754Val
ENST00000676820.1:n.2317C>T
ENST00000676868.1:n.2945C>T
ENST00000677013.1:c.*1951C>T ENSP00000503135.1:n.*1951C>T
ENST00000677250.1:c.*1381C>T ENSP00000502894.1:n.*1381C>T
ENST00000677616.1:c.1952C>T ENSP00000503055.1:p.Ala651Val
ENST00000677634.1:c.2261C>T ENSP00000504246.1:p.Ala754Val
ENST00000677685.1:c.*1486C>T ENSP00000503407.1:n.*1486C>T
ENST00000677783.1:n.2731C>T
ENST00000677946.1:c.2261C>T ENSP00000504202.1:p.Ala754Val
ENST00000678024.1:n.2404C>T
ENST00000678647.1:n.394C>T
ENST00000678694.1:n.1582C>T
ENST00000678804.1:c.2261C>T ENSP00000503853.1:p.Ala754Val
ENST00000679100.1:n.448C>T
ENST00000679103.1:c.2261C>T ENSP00000503151.1:p.Ala754Val
ENST00000679313.1:c.2261C>T ENSP00000504512.1:p.Ala754Val
ENST00000340748.8:c.2261C>T ENSP00000345739.3:p.Ala754Val
ENST00000359526.8:c.2309C>T ENSP00000352516.3:p.Ala770Val
ENST00000540357.5:c.1253C>T ENSP00000440457.2:p.Ala418Val
ENST00000586667.1:n.344C>T
ENST00000592705.5:c.*1999C>T ENSP00000466657.1:n.*1999C>T
NM_001130823.1:c.2309C>T , LRG_362t1:c.2309C>T NP_001124295.1:p.Ala770Val
NM_001379.2:c.2261C>T NP_001370.1:p.Ala754Val
XM_011527772.1:c.2309C>T XP_011526074.1:p.Ala770Val
XM_011527773.1:c.2261C>T XP_011526075.1:p.Ala754Val
XM_011527774.1:c.1898C>T XP_011526076.1:p.Ala633Val
NM_001130823.2:c.2309C>T NP_001124295.1:p.Ala770Val
NM_001318730.1:c.2261C>T NP_001305659.1:p.Ala754Val
NM_001318731.1:c.1946C>T NP_001305660.1:p.Ala649Val
NM_001379.3:c.2261C>T NP_001370.1:p.Ala754Val
NM_001130823.3:c.2309C>T MANE Select NP_001124295.1:p.Ala770Val
NM_001318730.2:c.2261C>T NP_001305659.1:p.Ala754Val
NM_001318731.2:c.1946C>T NP_001305660.1:p.Ala649Val
NM_001379.4:c.2261C>T NP_001370.1:p.Ala754Val