Canonical Allele Identifier: CA9188317

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 2046475
• ClinVar RCV Id: RCV002913696
• dbSNP Id: rs754570887
• ExAC: 19:10267125 G / A
• gnomAD v2: 19-10267125-G-A
• gnomAD v3: 19-10156449-G-A
• gnomAD v4: 19-10156449-G-A
• COSMIC: COSM5464376 ; COSM5464377
• MyVariant Identifiers: chr19:g.10267125G>A (hg19) ; chr19:g.10156449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156449G>A , CM000681.2:g.10156449G>A	GRCh38
NC_000019.9:g.10267125G>A , CM000681.1:g.10267125G>A	GRCh37
NC_000019.8:g.10128125G>A	NCBI36
NG_028016.3:g.79838C>T , LRG_362:g.79838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1341C>T MANE Select	ENSP00000352516.3:p.Ile447=
ENST00000676604.1:n.953C>T
ENST00000676610.1:c.1293C>T	ENSP00000504236.1:p.Ile431=
ENST00000676820.1:n.1349C>T
ENST00000676868.1:n.1977C>T
ENST00000677013.1:c.*983C>T	ENSP00000503135.1:n.*983C>T
ENST00000677250.1:c.*413C>T	ENSP00000502894.1:n.*413C>T
ENST00000677616.1:c.984C>T	ENSP00000503055.1:p.Ile328=
ENST00000677634.1:c.1293C>T	ENSP00000504246.1:p.Ile431=
ENST00000677685.1:c.*518C>T	ENSP00000503407.1:n.*518C>T
ENST00000677783.1:n.1763C>T
ENST00000677946.1:c.1293C>T	ENSP00000504202.1:p.Ile431=
ENST00000678024.1:n.1436C>T
ENST00000678694.1:n.614C>T
ENST00000678804.1:c.1293C>T	ENSP00000503853.1:p.Ile431=
ENST00000679103.1:c.1293C>T	ENSP00000503151.1:p.Ile431=
ENST00000679313.1:c.1293C>T	ENSP00000504512.1:p.Ile431=
ENST00000340748.8:c.1293C>T	ENSP00000345739.3:p.Ile431=
ENST00000359526.8:c.1341C>T	ENSP00000352516.3:p.Ile447=
ENST00000540357.5:c.285C>T	ENSP00000440457.2:p.Ile95=
ENST00000585843.1:n.498C>T
ENST00000592705.5:c.*1031C>T	ENSP00000466657.1:n.*1031C>T
NM_001130823.1:c.1341C>T , LRG_362t1:c.1341C>T	NP_001124295.1:p.Ile447=
NM_001379.2:c.1293C>T	NP_001370.1:p.Ile431=
XM_011527772.1:c.1341C>T	XP_011526074.1:p.Ile447=
XM_011527773.1:c.1293C>T	XP_011526075.1:p.Ile431=
XM_011527774.1:c.930C>T	XP_011526076.1:p.Ile310=
NM_001130823.2:c.1341C>T	NP_001124295.1:p.Ile447=
NM_001318730.1:c.1293C>T	NP_001305659.1:p.Ile431=
NM_001318731.1:c.978C>T	NP_001305660.1:p.Ile326=
NM_001379.3:c.1293C>T	NP_001370.1:p.Ile431=
NM_001130823.3:c.1341C>T MANE Select	NP_001124295.1:p.Ile447=
NM_001318730.2:c.1293C>T	NP_001305659.1:p.Ile431=
NM_001318731.2:c.978C>T	NP_001305660.1:p.Ile326=
NM_001379.4:c.1293C>T	NP_001370.1:p.Ile431=