Canonical Allele Identifier: CA9188316

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 2957257
• ClinVar RCV Id: RCV003818944
• dbSNP Id: rs751093624
• ExAC: 19:10267124 C / T
• gnomAD v2: 19-10267124-C-T
• COSMIC: COSM266403 ; COSM5826029
• MyVariant Identifiers: chr19:g.10267124C>T (hg19) ; chr19:g.10156448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156448C>T , CM000681.2:g.10156448C>T	GRCh38
NC_000019.9:g.10267124C>T , CM000681.1:g.10267124C>T	GRCh37
NC_000019.8:g.10128124C>T	NCBI36
NG_028016.3:g.79839G>A , LRG_362:g.79839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1342G>A MANE Select	ENSP00000352516.3:p.Glu448Lys
ENST00000676604.1:n.954G>A
ENST00000676610.1:c.1294G>A	ENSP00000504236.1:p.Glu432Lys
ENST00000676820.1:n.1350G>A
ENST00000676868.1:n.1978G>A
ENST00000677013.1:c.*984G>A	ENSP00000503135.1:n.*984G>A
ENST00000677250.1:c.*414G>A	ENSP00000502894.1:n.*414G>A
ENST00000677616.1:c.985G>A	ENSP00000503055.1:p.Glu329Lys
ENST00000677634.1:c.1294G>A	ENSP00000504246.1:p.Glu432Lys
ENST00000677685.1:c.*519G>A	ENSP00000503407.1:n.*519G>A
ENST00000677783.1:n.1764G>A
ENST00000677946.1:c.1294G>A	ENSP00000504202.1:p.Glu432Lys
ENST00000678024.1:n.1437G>A
ENST00000678694.1:n.615G>A
ENST00000678804.1:c.1294G>A	ENSP00000503853.1:p.Glu432Lys
ENST00000679103.1:c.1294G>A	ENSP00000503151.1:p.Glu432Lys
ENST00000679313.1:c.1294G>A	ENSP00000504512.1:p.Glu432Lys
ENST00000340748.8:c.1294G>A	ENSP00000345739.3:p.Glu432Lys
ENST00000359526.8:c.1342G>A	ENSP00000352516.3:p.Glu448Lys
ENST00000540357.5:c.286G>A	ENSP00000440457.2:p.Glu96Lys
ENST00000585843.1:n.499G>A
ENST00000592705.5:c.*1032G>A	ENSP00000466657.1:n.*1032G>A
NM_001130823.1:c.1342G>A , LRG_362t1:c.1342G>A	NP_001124295.1:p.Glu448Lys
NM_001379.2:c.1294G>A	NP_001370.1:p.Glu432Lys
XM_011527772.1:c.1342G>A	XP_011526074.1:p.Glu448Lys
XM_011527773.1:c.1294G>A	XP_011526075.1:p.Glu432Lys
XM_011527774.1:c.931G>A	XP_011526076.1:p.Glu311Lys
NM_001130823.2:c.1342G>A	NP_001124295.1:p.Glu448Lys
NM_001318730.1:c.1294G>A	NP_001305659.1:p.Glu432Lys
NM_001318731.1:c.979G>A	NP_001305660.1:p.Glu327Lys
NM_001379.3:c.1294G>A	NP_001370.1:p.Glu432Lys
NM_001130823.3:c.1342G>A MANE Select	NP_001124295.1:p.Glu448Lys
NM_001318730.2:c.1294G>A	NP_001305659.1:p.Glu432Lys
NM_001318731.2:c.979G>A	NP_001305660.1:p.Glu327Lys
NM_001379.4:c.1294G>A	NP_001370.1:p.Glu432Lys