Canonical Allele Identifier: CA9188440

Gene: DNMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10160384G>A , CM000681.2:g.10160384G>A	GRCh38
NC_000019.9:g.10271060G>A , CM000681.1:g.10271060G>A	GRCh37
NC_000019.8:g.10132060G>A	NCBI36
NG_028016.3:g.75903C>T , LRG_362:g.75903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1043C>T MANE Select	ENSP00000352516.3:p.Pro348Leu
ENST00000676604.1:n.655C>T
ENST00000676610.1:c.995C>T	ENSP00000504236.1:p.Pro332Leu
ENST00000676820.1:n.1051C>T
ENST00000676868.1:n.1679C>T
ENST00000677013.1:c.*685C>T	ENSP00000503135.1:n.*685C>T
ENST00000677250.1:c.*115C>T	ENSP00000502894.1:n.*115C>T
ENST00000677616.1:c.686C>T	ENSP00000503055.1:p.Pro229Leu
ENST00000677634.1:c.995C>T	ENSP00000504246.1:p.Pro332Leu
ENST00000677685.1:c.*220C>T	ENSP00000503407.1:n.*220C>T
ENST00000677783.1:n.1465C>T
ENST00000677946.1:c.995C>T	ENSP00000504202.1:p.Pro332Leu
ENST00000678024.1:n.1138C>T
ENST00000678694.1:n.316C>T
ENST00000678804.1:c.995C>T	ENSP00000503853.1:p.Pro332Leu
ENST00000679103.1:c.995C>T	ENSP00000503151.1:p.Pro332Leu
ENST00000679313.1:c.995C>T	ENSP00000504512.1:p.Pro332Leu
ENST00000340748.8:c.995C>T	ENSP00000345739.3:p.Pro332Leu
ENST00000359526.8:c.1043C>T	ENSP00000352516.3:p.Pro348Leu
ENST00000540357.5:c.-14C>T	ENSP00000440457.2:n.-14C>T
ENST00000585920.1:n.352C>T
ENST00000589349.5:n.226C>T
ENST00000591764.1:n.221C>T
ENST00000592705.5:c.*733C>T	ENSP00000466657.1:n.*733C>T
NM_001130823.1:c.1043C>T , LRG_362t1:c.1043C>T	NP_001124295.1:p.Pro348Leu
NM_001379.2:c.995C>T	NP_001370.1:p.Pro332Leu
XM_011527772.1:c.1043C>T	XP_011526074.1:p.Pro348Leu
XM_011527773.1:c.995C>T	XP_011526075.1:p.Pro332Leu
XM_011527774.1:c.632C>T	XP_011526076.1:p.Pro211Leu
NM_001130823.2:c.1043C>T	NP_001124295.1:p.Pro348Leu
NM_001318730.1:c.995C>T	NP_001305659.1:p.Pro332Leu
NM_001318731.1:c.680C>T	NP_001305660.1:p.Pro227Leu
NM_001379.3:c.995C>T	NP_001370.1:p.Pro332Leu
NM_001130823.3:c.1043C>T MANE Select	NP_001124295.1:p.Pro348Leu
NM_001318730.2:c.995C>T	NP_001305659.1:p.Pro332Leu
NM_001318731.2:c.680C>T	NP_001305660.1:p.Pro227Leu
NM_001379.4:c.995C>T	NP_001370.1:p.Pro332Leu