Canonical Allele Identifier: CA403946219

Gene: DNMT1

Linked Data

• dbSNP Id: rs1425787169
• gnomAD v2: 19-10291088-G-A
• gnomAD v4: 19-10180412-G-A
• MyVariant Identifiers: chr19:g.10291088G>A (hg19) ; chr19:g.10180412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10180412G>A , CM000681.2:g.10180412G>A	GRCh38
NC_000019.9:g.10291088G>A , CM000681.1:g.10291088G>A	GRCh37
NC_000019.8:g.10152088G>A	NCBI36
NG_028016.3:g.55875C>T , LRG_362:g.55875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.383C>T MANE Select	ENSP00000352516.3:p.Pro128Leu
ENST00000676610.1:c.383C>T	ENSP00000504236.1:p.Pro128Leu
ENST00000676820.1:n.439C>T
ENST00000677013.1:c.*73C>T	ENSP00000503135.1:n.*73C>T
ENST00000677250.1:c.383C>T	ENSP00000502894.1:p.Pro128Leu
ENST00000677616.1:c.20C>T	ENSP00000503055.1:p.Pro7Leu
ENST00000677634.1:c.383C>T	ENSP00000504246.1:p.Pro128Leu
ENST00000677685.1:c.225+366C>T	ENSP00000503407.1:n.225+366C>T
ENST00000677946.1:c.383C>T	ENSP00000504202.1:p.Pro128Leu
ENST00000678804.1:c.383C>T	ENSP00000503853.1:p.Pro128Leu
ENST00000679103.1:c.383C>T	ENSP00000503151.1:p.Pro128Leu
ENST00000679313.1:c.383C>T	ENSP00000504512.1:p.Pro128Leu
ENST00000340748.8:c.383C>T	ENSP00000345739.3:p.Pro128Leu
ENST00000359526.8:c.383C>T	ENSP00000352516.3:p.Pro128Leu
ENST00000540357.5:c.-560-3048C>T	ENSP00000440457.2:n.-560-3048C>T
ENST00000586800.5:c.20C>T	ENSP00000465555.1:p.Pro7Leu
ENST00000586988.5:c.*211C>T	ENSP00000464958.1:n.*211C>T
ENST00000588118.5:c.548C>T	ENSP00000465223.1:p.Pro183Leu
ENST00000588952.5:c.20C>T	ENSP00000467050.1:p.Pro7Leu
ENST00000592054.5:c.20C>T	ENSP00000468359.1:p.Pro7Leu
ENST00000592342.5:c.20C>T	ENSP00000465993.1:p.Pro7Leu
ENST00000592705.5:c.*73C>T	ENSP00000466657.1:n.*73C>T
NM_001130823.1:c.383C>T , LRG_362t1:c.383C>T	NP_001124295.1:p.Pro128Leu
NM_001379.2:c.383C>T	NP_001370.1:p.Pro128Leu
XM_011527772.1:c.383C>T	XP_011526074.1:p.Pro128Leu
XM_011527773.1:c.383C>T	XP_011526075.1:p.Pro128Leu
XM_011527774.1:c.20C>T	XP_011526076.1:p.Pro7Leu
NM_001130823.2:c.383C>T	NP_001124295.1:p.Pro128Leu
NM_001318730.1:c.383C>T	NP_001305659.1:p.Pro128Leu
NM_001318731.1:c.20C>T	NP_001305660.1:p.Pro7Leu
NM_001379.3:c.383C>T	NP_001370.1:p.Pro128Leu
NM_001130823.3:c.383C>T MANE Select	NP_001124295.1:p.Pro128Leu
NM_001318730.2:c.383C>T	NP_001305659.1:p.Pro128Leu
NM_001318731.2:c.20C>T	NP_001305660.1:p.Pro7Leu
NM_001379.4:c.383C>T	NP_001370.1:p.Pro128Leu