Canonical Allele Identifier: CA259618

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 29682
• ClinVar RCV Id: RCV000022529 ; RCV000236669 ; RCV000789093 ; RCV002283444
• dbSNP Id: rs199473690
• MyVariant Identifiers: chr19:g.10265693T>C (hg19) ; chr19:g.10155017T>C (hg38)
• PubMed: PMID:7898717 ; PMID:10210919 ; PMID:21532572 ; PMID:23365052 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10155017T>C , CM000681.2:g.10155017T>C	GRCh38
NC_000019.9:g.10265693T>C , CM000681.1:g.10265693T>C	GRCh37
NC_000019.8:g.10126693T>C	NCBI36
NG_028016.3:g.81270A>G , LRG_362:g.81270A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1532A>G MANE Select	ENSP00000352516.3:p.Tyr511Cys
ENST00000676604.1:n.1144A>G
ENST00000676610.1:c.1484A>G	ENSP00000504236.1:p.Tyr495Cys
ENST00000676820.1:n.1540A>G
ENST00000676868.1:n.2168A>G
ENST00000677013.1:c.*1174A>G	ENSP00000503135.1:n.*1174A>G
ENST00000677250.1:c.*604A>G	ENSP00000502894.1:n.*604A>G
ENST00000677616.1:c.1175A>G	ENSP00000503055.1:p.Tyr392Cys
ENST00000677634.1:c.1484A>G	ENSP00000504246.1:p.Tyr495Cys
ENST00000677685.1:c.*709A>G	ENSP00000503407.1:n.*709A>G
ENST00000677783.1:n.1954A>G
ENST00000677946.1:c.1484A>G	ENSP00000504202.1:p.Tyr495Cys
ENST00000678024.1:n.1627A>G
ENST00000678694.1:n.805A>G
ENST00000678804.1:c.1484A>G	ENSP00000503853.1:p.Tyr495Cys
ENST00000679103.1:c.1484A>G	ENSP00000503151.1:p.Tyr495Cys
ENST00000679313.1:c.1484A>G	ENSP00000504512.1:p.Tyr495Cys
ENST00000340748.8:c.1484A>G	ENSP00000345739.3:p.Tyr495Cys
ENST00000359526.8:c.1532A>G	ENSP00000352516.3:p.Tyr511Cys
ENST00000540357.5:c.476A>G	ENSP00000440457.2:p.Tyr159Cys
ENST00000585843.1:n.689A>G
ENST00000592705.5:c.*1222A>G	ENSP00000466657.1:n.*1222A>G
NM_001130823.1:c.1532A>G , LRG_362t1:c.1532A>G	NP_001124295.1:p.Tyr511Cys
NM_001379.2:c.1484A>G	NP_001370.1:p.Tyr495Cys
XM_011527772.1:c.1532A>G	XP_011526074.1:p.Tyr511Cys
XM_011527773.1:c.1484A>G	XP_011526075.1:p.Tyr495Cys
XM_011527774.1:c.1121A>G	XP_011526076.1:p.Tyr374Cys
NM_001130823.2:c.1532A>G	NP_001124295.1:p.Tyr511Cys
NM_001318730.1:c.1484A>G	NP_001305659.1:p.Tyr495Cys
NM_001318731.1:c.1169A>G	NP_001305660.1:p.Tyr390Cys
NM_001379.3:c.1484A>G	NP_001370.1:p.Tyr495Cys
NM_001130823.3:c.1532A>G MANE Select	NP_001124295.1:p.Tyr511Cys
NM_001318730.2:c.1484A>G	NP_001305659.1:p.Tyr495Cys
NM_001318731.2:c.1169A>G	NP_001305660.1:p.Tyr390Cys
NM_001379.4:c.1484A>G	NP_001370.1:p.Tyr495Cys