Canonical Allele Identifier: CA9187527

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 472276
• ClinVar RCV Id: RCV001697001
• dbSNP Id: rs2229858
• ExAC: 19:10247882 G / A
• gnomAD v2: 19-10247882-G-A
• gnomAD v3: 19-10137206-G-A
• gnomAD v4: 19-10137206-G-A
• MyVariant Identifiers: chr19:g.10247882G>A (hg19) ; chr19:g.10137206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10137206G>A , CM000681.2:g.10137206G>A	GRCh38
NC_000019.9:g.10247882G>A , CM000681.1:g.10247882G>A	GRCh37
NC_000019.8:g.10108882G>A	NCBI36
NG_028016.3:g.99081C>T , LRG_362:g.99081C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359526.9:c.4368C>T MANE Select	ENSP00000352516.3:p.Pro1456=
ENST00000586667.2:n.2403C>T
ENST00000589351.6:n.3554C>T
ENST00000676604.1:n.3980C>T
ENST00000676610.1:c.4320C>T	ENSP00000504236.1:p.Pro1440=
ENST00000676820.1:n.5214C>T
ENST00000676868.1:n.5004C>T
ENST00000677013.1:c.*4010C>T	ENSP00000503135.1:n.*4010C>T
ENST00000677038.1:n.907C>T
ENST00000677250.1:c.*3440C>T	ENSP00000502894.1:n.*3440C>T
ENST00000677616.1:c.*590C>T	ENSP00000503055.1:n.*590C>T
ENST00000677634.1:c.*923C>T	ENSP00000504246.1:n.*923C>T
ENST00000677685.1:c.*3545C>T	ENSP00000503407.1:n.*3545C>T
ENST00000677783.1:n.5628C>T
ENST00000677946.1:c.4320C>T	ENSP00000504202.1:p.Pro1440=
ENST00000678024.1:n.5301C>T
ENST00000678107.1:n.1363C>T
ENST00000678239.1:n.1212C>T
ENST00000678647.1:n.2453C>T
ENST00000678694.1:n.3641C>T
ENST00000678804.1:c.4320C>T	ENSP00000503853.1:p.Pro1440=
ENST00000678851.1:n.362C>T
ENST00000678957.1:n.2032C>T
ENST00000679100.1:n.2507C>T
ENST00000679103.1:c.4320C>T	ENSP00000503151.1:p.Pro1440=
ENST00000679313.1:c.4320C>T	ENSP00000504512.1:p.Pro1440=
ENST00000340748.8:c.4320C>T	ENSP00000345739.3:p.Pro1440=
ENST00000359526.8:c.4368C>T	ENSP00000352516.3:p.Pro1456=
ENST00000540357.5:c.3312C>T	ENSP00000440457.2:p.Pro1104=
ENST00000586588.5:n.2241C>T
ENST00000588913.5:c.647C>T
ENST00000592705.5:c.*4058C>T	ENSP00000466657.1:n.*4058C>T
NM_001130823.1:c.4368C>T , LRG_362t1:c.4368C>T	NP_001124295.1:p.Pro1456=
NM_001379.2:c.4320C>T	NP_001370.1:p.Pro1440=
XM_011527772.1:c.4368C>T	XP_011526074.1:p.Pro1456=
XM_011527773.1:c.4320C>T	XP_011526075.1:p.Pro1440=
XM_011527774.1:c.3957C>T	XP_011526076.1:p.Pro1319=
NM_001130823.2:c.4368C>T	NP_001124295.1:p.Pro1456=
NM_001318730.1:c.4320C>T	NP_001305659.1:p.Pro1440=
NM_001318731.1:c.4005C>T	NP_001305660.1:p.Pro1335=
NM_001379.3:c.4320C>T	NP_001370.1:p.Pro1440=
NM_001130823.3:c.4368C>T MANE Select	NP_001124295.1:p.Pro1456=
NM_001318730.2:c.4320C>T	NP_001305659.1:p.Pro1440=
NM_001318731.2:c.4005C>T	NP_001305660.1:p.Pro1335=
NM_001379.4:c.4320C>T	NP_001370.1:p.Pro1440=