Canonical Allele Identifier: CA14708325

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 1293060
• ClinVar RCV Id: RCV001717316
• dbSNP Id: rs10421746
• gnomAD v2: 19-10267252-G-T
• gnomAD v3: 19-10156576-G-T
• gnomAD v4: 19-10156576-G-T
• MyVariant Identifiers: chr19:g.10267252G>T (hg19) ; chr19:g.10156576G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156576G>T , CM000681.2:g.10156576G>T	GRCh38
NC_000019.9:g.10267252G>T , CM000681.1:g.10267252G>T	GRCh37
NC_000019.8:g.10128252G>T	NCBI36
NG_028016.3:g.79711C>A , LRG_362:g.79711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1281-67C>A MANE Select	ENSP00000352516.3:n.1281-67C>A
ENST00000676604.1:n.893-67C>A
ENST00000676610.1:c.1233-67C>A	ENSP00000504236.1:n.1233-67C>A
ENST00000676820.1:n.1289-67C>A
ENST00000676868.1:n.1917-67C>A
ENST00000677013.1:c.*923-67C>A	ENSP00000503135.1:n.*923-67C>A
ENST00000677250.1:c.*353-67C>A	ENSP00000502894.1:n.*353-67C>A
ENST00000677616.1:c.924-67C>A	ENSP00000503055.1:n.924-67C>A
ENST00000677634.1:c.1233-67C>A	ENSP00000504246.1:n.1233-67C>A
ENST00000677685.1:c.*458-67C>A	ENSP00000503407.1:n.*458-67C>A
ENST00000677783.1:n.1703-67C>A
ENST00000677946.1:c.1233-67C>A	ENSP00000504202.1:n.1233-67C>A
ENST00000678024.1:n.1376-67C>A
ENST00000678694.1:n.554-67C>A
ENST00000678804.1:c.1233-67C>A	ENSP00000503853.1:n.1233-67C>A
ENST00000679103.1:c.1233-67C>A	ENSP00000503151.1:n.1233-67C>A
ENST00000679313.1:c.1233-67C>A	ENSP00000504512.1:n.1233-67C>A
ENST00000340748.8:c.1233-67C>A	ENSP00000345739.3:n.1233-67C>A
ENST00000359526.8:c.1281-67C>A	ENSP00000352516.3:n.1281-67C>A
ENST00000540357.5:c.225-67C>A	ENSP00000440457.2:n.225-67C>A
ENST00000585843.1:n.438-67C>A
ENST00000592705.5:c.*971-67C>A	ENSP00000466657.1:n.*971-67C>A
NM_001130823.1:c.1281-67C>A , LRG_362t1:c.1281-67C>A	NP_001124295.1:n.1281-67C>A
NM_001379.2:c.1233-67C>A	NP_001370.1:n.1233-67C>A
XM_011527772.1:c.1281-67C>A	XP_011526074.1:n.1281-67C>A
XM_011527773.1:c.1233-67C>A	XP_011526075.1:n.1233-67C>A
XM_011527774.1:c.870-67C>A	XP_011526076.1:n.870-67C>A
NM_001130823.2:c.1281-67C>A	NP_001124295.1:n.1281-67C>A
NM_001318730.1:c.1233-67C>A	NP_001305659.1:n.1233-67C>A
NM_001318731.1:c.918-67C>A	NP_001305660.1:n.918-67C>A
NM_001379.3:c.1233-67C>A	NP_001370.1:n.1233-67C>A
NM_001130823.3:c.1281-67C>A MANE Select	NP_001124295.1:n.1281-67C>A
NM_001318730.2:c.1233-67C>A	NP_001305659.1:n.1233-67C>A
NM_001318731.2:c.918-67C>A	NP_001305660.1:n.918-67C>A
NM_001379.4:c.1233-67C>A	NP_001370.1:n.1233-67C>A