Canonical Allele Identifier: CA9187679

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 289710
• ClinVar RCV Id: RCV000352192 ; RCV001080416
• dbSNP Id: rs371779379
• ExAC: 19:10250716 G / A
• gnomAD v2: 19-10250716-G-A
• gnomAD v3: 19-10140040-G-A
• gnomAD v4: 19-10140040-G-A
• MyVariant Identifiers: chr19:g.10250716G>A (hg19) ; chr19:g.10140040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10140040G>A , CM000681.2:g.10140040G>A	GRCh38
NC_000019.9:g.10250716G>A , CM000681.1:g.10250716G>A	GRCh37
NC_000019.8:g.10111716G>A	NCBI36
NG_028016.3:g.96247C>T , LRG_362:g.96247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.3806+6C>T MANE Select	ENSP00000352516.3:n.3806+6C>T
ENST00000586667.2:n.1841+6C>T
ENST00000589351.6:n.1700C>T
ENST00000676604.1:n.3418+6C>T
ENST00000676610.1:c.3758+6C>T	ENSP00000504236.1:n.3758+6C>T
ENST00000676820.1:n.4652+6C>T
ENST00000676868.1:n.4442+6C>T
ENST00000677013.1:c.*3448+6C>T	ENSP00000503135.1:n.*3448+6C>T
ENST00000677250.1:c.*2878+6C>T	ENSP00000502894.1:n.*2878+6C>T
ENST00000677616.1:c.3449+6C>T	ENSP00000503055.1:n.3449+6C>T
ENST00000677634.1:c.*361+6C>T	ENSP00000504246.1:n.*361+6C>T
ENST00000677685.1:c.*2983+6C>T	ENSP00000503407.1:n.*2983+6C>T
ENST00000677783.1:n.5066+6C>T
ENST00000677946.1:c.3758+6C>T	ENSP00000504202.1:n.3758+6C>T
ENST00000678024.1:n.4739+6C>T
ENST00000678107.1:n.579C>T
ENST00000678239.1:n.428C>T
ENST00000678647.1:n.1891+6C>T
ENST00000678694.1:n.3079+6C>T
ENST00000678804.1:c.3758+6C>T	ENSP00000503853.1:n.3758+6C>T
ENST00000678957.1:n.1248C>T
ENST00000679100.1:n.1945+6C>T
ENST00000679103.1:c.3758+6C>T	ENSP00000503151.1:n.3758+6C>T
ENST00000679313.1:c.3758+6C>T	ENSP00000504512.1:n.3758+6C>T
ENST00000340748.8:c.3758+6C>T	ENSP00000345739.3:n.3758+6C>T
ENST00000359526.8:c.3806+6C>T	ENSP00000352516.3:n.3806+6C>T
ENST00000540357.5:c.2750+6C>T	ENSP00000440457.2:n.2750+6C>T
ENST00000586588.5:n.1679+6C>T
ENST00000587197.1:n.156C>T
ENST00000588913.5:c.85+6C>T
ENST00000589538.5:n.549C>T
ENST00000592705.5:c.*3496+6C>T	ENSP00000466657.1:n.*3496+6C>T
NM_001130823.1:c.3806+6C>T , LRG_362t1:c.3806+6C>T	NP_001124295.1:n.3806+6C>T
NM_001379.2:c.3758+6C>T	NP_001370.1:n.3758+6C>T
XM_011527772.1:c.3806+6C>T	XP_011526074.1:n.3806+6C>T
XM_011527773.1:c.3758+6C>T	XP_011526075.1:n.3758+6C>T
XM_011527774.1:c.3395+6C>T	XP_011526076.1:n.3395+6C>T
NM_001130823.2:c.3806+6C>T	NP_001124295.1:n.3806+6C>T
NM_001318730.1:c.3758+6C>T	NP_001305659.1:n.3758+6C>T
NM_001318731.1:c.3443+6C>T	NP_001305660.1:n.3443+6C>T
NM_001379.3:c.3758+6C>T	NP_001370.1:n.3758+6C>T
NM_001130823.3:c.3806+6C>T MANE Select	NP_001124295.1:n.3806+6C>T
NM_001318730.2:c.3758+6C>T	NP_001305659.1:n.3758+6C>T
NM_001318731.2:c.3443+6C>T	NP_001305660.1:n.3443+6C>T
NM_001379.4:c.3758+6C>T	NP_001370.1:n.3758+6C>T