Canonical Allele Identifier: CA403937900

Gene: DNMT1

Linked Data

• gnomAD v4: 19-10156394-C-A
• MyVariant Identifiers: chr19:g.10267070C>A (hg19) ; chr19:g.10156394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156394C>A , CM000681.2:g.10156394C>A	GRCh38
NC_000019.9:g.10267070C>A , CM000681.1:g.10267070C>A	GRCh37
NC_000019.8:g.10128070C>A	NCBI36
NG_028016.3:g.79893G>T , LRG_362:g.79893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1396G>T MANE Select	ENSP00000352516.3:p.Glu466Ter
ENST00000676604.1:n.1008G>T
ENST00000676610.1:c.1348G>T	ENSP00000504236.1:p.Glu450Ter
ENST00000676820.1:n.1404G>T
ENST00000676868.1:n.2032G>T
ENST00000677013.1:c.*1038G>T	ENSP00000503135.1:n.*1038G>T
ENST00000677250.1:c.*468G>T	ENSP00000502894.1:n.*468G>T
ENST00000677616.1:c.1039G>T	ENSP00000503055.1:p.Glu347Ter
ENST00000677634.1:c.1348G>T	ENSP00000504246.1:p.Glu450Ter
ENST00000677685.1:c.*573G>T	ENSP00000503407.1:n.*573G>T
ENST00000677783.1:n.1818G>T
ENST00000677946.1:c.1348G>T	ENSP00000504202.1:p.Glu450Ter
ENST00000678024.1:n.1491G>T
ENST00000678694.1:n.669G>T
ENST00000678804.1:c.1348G>T	ENSP00000503853.1:p.Glu450Ter
ENST00000679103.1:c.1348G>T	ENSP00000503151.1:p.Glu450Ter
ENST00000679313.1:c.1348G>T	ENSP00000504512.1:p.Glu450Ter
ENST00000340748.8:c.1348G>T	ENSP00000345739.3:p.Glu450Ter
ENST00000359526.8:c.1396G>T	ENSP00000352516.3:p.Glu466Ter
ENST00000540357.5:c.340G>T	ENSP00000440457.2:p.Glu114Ter
ENST00000585843.1:n.553G>T
ENST00000592705.5:c.*1086G>T	ENSP00000466657.1:n.*1086G>T
NM_001130823.1:c.1396G>T , LRG_362t1:c.1396G>T	NP_001124295.1:p.Glu466Ter
NM_001379.2:c.1348G>T	NP_001370.1:p.Glu450Ter
XM_011527772.1:c.1396G>T	XP_011526074.1:p.Glu466Ter
XM_011527773.1:c.1348G>T	XP_011526075.1:p.Glu450Ter
XM_011527774.1:c.985G>T	XP_011526076.1:p.Glu329Ter
NM_001130823.2:c.1396G>T	NP_001124295.1:p.Glu466Ter
NM_001318730.1:c.1348G>T	NP_001305659.1:p.Glu450Ter
NM_001318731.1:c.1033G>T	NP_001305660.1:p.Glu345Ter
NM_001379.3:c.1348G>T	NP_001370.1:p.Glu450Ter
NM_001130823.3:c.1396G>T MANE Select	NP_001124295.1:p.Glu466Ter
NM_001318730.2:c.1348G>T	NP_001305659.1:p.Glu450Ter
NM_001318731.2:c.1033G>T	NP_001305660.1:p.Glu345Ter
NM_001379.4:c.1348G>T	NP_001370.1:p.Glu450Ter