Canonical Allele Identifier: CA505346740

Gene: DNMT1

Linked Data

• dbSNP Id: rs2228611
• gnomAD v2: 19-10267077-T-A
• MyVariant Identifiers: chr19:g.10267077T>A (hg19) ; chr19:g.10156401T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156401T>A , CM000681.2:g.10156401T>A	GRCh38
NC_000019.9:g.10267077T>A , CM000681.1:g.10267077T>A	GRCh37
NC_000019.8:g.10128077T>A	NCBI36
NG_028016.3:g.79886A>T , LRG_362:g.79886A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359526.9:c.1389A>T MANE Select	ENSP00000352516.3:p.Pro463=
ENST00000676604.1:n.1001A>T
ENST00000676610.1:c.1341A>T	ENSP00000504236.1:p.Pro447=
ENST00000676820.1:n.1397A>T
ENST00000676868.1:n.2025A>T
ENST00000677013.1:c.*1031A>T	ENSP00000503135.1:n.*1031A>T
ENST00000677250.1:c.*461A>T	ENSP00000502894.1:n.*461A>T
ENST00000677616.1:c.1032A>T	ENSP00000503055.1:p.Pro344=
ENST00000677634.1:c.1341A>T	ENSP00000504246.1:p.Pro447=
ENST00000677685.1:c.*566A>T	ENSP00000503407.1:n.*566A>T
ENST00000677783.1:n.1811A>T
ENST00000677946.1:c.1341A>T	ENSP00000504202.1:p.Pro447=
ENST00000678024.1:n.1484A>T
ENST00000678694.1:n.662A>T
ENST00000678804.1:c.1341A>T	ENSP00000503853.1:p.Pro447=
ENST00000679103.1:c.1341A>T	ENSP00000503151.1:p.Pro447=
ENST00000679313.1:c.1341A>T	ENSP00000504512.1:p.Pro447=
ENST00000340748.8:c.1341A>T	ENSP00000345739.3:p.Pro447=
ENST00000359526.8:c.1389A>T	ENSP00000352516.3:p.Pro463=
ENST00000540357.5:c.333A>T	ENSP00000440457.2:p.Pro111=
ENST00000585843.1:n.546A>T
ENST00000592705.5:c.*1079A>T	ENSP00000466657.1:n.*1079A>T
NM_001130823.1:c.1389A>T , LRG_362t1:c.1389A>T	NP_001124295.1:p.Pro463=
NM_001379.2:c.1341A>T	NP_001370.1:p.Pro447=
XM_011527772.1:c.1389A>T	XP_011526074.1:p.Pro463=
XM_011527773.1:c.1341A>T	XP_011526075.1:p.Pro447=
XM_011527774.1:c.978A>T	XP_011526076.1:p.Pro326=
NM_001130823.2:c.1389A>T	NP_001124295.1:p.Pro463=
NM_001318730.1:c.1341A>T	NP_001305659.1:p.Pro447=
NM_001318731.1:c.1026A>T	NP_001305660.1:p.Pro342=
NM_001379.3:c.1341A>T	NP_001370.1:p.Pro447=
NM_001130823.3:c.1389A>T MANE Select	NP_001124295.1:p.Pro463=
NM_001318730.2:c.1341A>T	NP_001305659.1:p.Pro447=
NM_001318731.2:c.1026A>T	NP_001305660.1:p.Pro342=
NM_001379.4:c.1341A>T	NP_001370.1:p.Pro447=