Canonical Allele Identifier: CA143866

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 50921
• ClinVar RCV Id: RCV000043633 ; RCV003447104
• dbSNP Id: rs397509393
• MyVariant Identifiers: chr19:g.10265280C>G (hg19) ; chr19:g.10154604C>G (hg38)
• PubMed: PMID:22328086

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10154604C>G , CM000681.2:g.10154604C>G	GRCh38
NC_000019.9:g.10265280C>G , CM000681.1:g.10265280C>G	GRCh37
NC_000019.8:g.10126280C>G	NCBI36
NG_028016.3:g.81683G>C , LRG_362:g.81683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1814G>C MANE Select	ENSP00000352516.3:p.Gly605Ala
ENST00000676604.1:n.1426G>C
ENST00000676610.1:c.1766G>C	ENSP00000504236.1:p.Gly589Ala
ENST00000676820.1:n.1822G>C
ENST00000676868.1:n.2450G>C
ENST00000677013.1:c.*1456G>C	ENSP00000503135.1:n.*1456G>C
ENST00000677250.1:c.*886G>C	ENSP00000502894.1:n.*886G>C
ENST00000677616.1:c.1457G>C	ENSP00000503055.1:p.Gly486Ala
ENST00000677634.1:c.1766G>C	ENSP00000504246.1:p.Gly589Ala
ENST00000677685.1:c.*991G>C	ENSP00000503407.1:n.*991G>C
ENST00000677783.1:n.2236G>C
ENST00000677946.1:c.1766G>C	ENSP00000504202.1:p.Gly589Ala
ENST00000678024.1:n.1909G>C
ENST00000678694.1:n.1087G>C
ENST00000678804.1:c.1766G>C	ENSP00000503853.1:p.Gly589Ala
ENST00000679103.1:c.1766G>C	ENSP00000503151.1:p.Gly589Ala
ENST00000679313.1:c.1766G>C	ENSP00000504512.1:p.Gly589Ala
ENST00000340748.8:c.1766G>C	ENSP00000345739.3:p.Gly589Ala
ENST00000359526.8:c.1814G>C	ENSP00000352516.3:p.Gly605Ala
ENST00000540357.5:c.758G>C	ENSP00000440457.2:p.Gly253Ala
ENST00000586799.1:c.200G>C
ENST00000592705.5:c.*1504G>C	ENSP00000466657.1:n.*1504G>C
NM_001130823.1:c.1814G>C , LRG_362t1:c.1814G>C	NP_001124295.1:p.Gly605Ala
NM_001379.2:c.1766G>C	NP_001370.1:p.Gly589Ala
XM_011527772.1:c.1814G>C	XP_011526074.1:p.Gly605Ala
XM_011527773.1:c.1766G>C	XP_011526075.1:p.Gly589Ala
XM_011527774.1:c.1403G>C	XP_011526076.1:p.Gly468Ala
NM_001130823.2:c.1814G>C	NP_001124295.1:p.Gly605Ala
NM_001318730.1:c.1766G>C	NP_001305659.1:p.Gly589Ala
NM_001318731.1:c.1451G>C	NP_001305660.1:p.Gly484Ala
NM_001379.3:c.1766G>C	NP_001370.1:p.Gly589Ala
NM_001130823.3:c.1814G>C MANE Select	NP_001124295.1:p.Gly605Ala
NM_001318730.2:c.1766G>C	NP_001305659.1:p.Gly589Ala
NM_001318731.2:c.1451G>C	NP_001305660.1:p.Gly484Ala
NM_001379.4:c.1766G>C	NP_001370.1:p.Gly589Ala