Canonical Allele Identifier: CA403976348

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 1928953
• ClinVar RCV Id: RCV002618480
• gnomAD v4: 19-10146478-T-A
• MyVariant Identifiers: chr19:g.10257154T>A (hg19) ; chr19:g.10146478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10146478T>A , CM000681.2:g.10146478T>A	GRCh38
NC_000019.9:g.10257154T>A , CM000681.1:g.10257154T>A	GRCh37
NC_000019.8:g.10118154T>A	NCBI36
NG_028016.3:g.89809A>T , LRG_362:g.89809A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359526.9:c.2767A>T MANE Select	ENSP00000352516.3:p.Ile923Phe
ENST00000586667.2:n.802A>T
ENST00000676604.1:n.2379A>T
ENST00000676610.1:c.2719A>T	ENSP00000504236.1:p.Ile907Phe
ENST00000676820.1:n.2775A>T
ENST00000676868.1:n.3403A>T
ENST00000677013.1:c.*2409A>T	ENSP00000503135.1:n.*2409A>T
ENST00000677250.1:c.*1839A>T	ENSP00000502894.1:n.*1839A>T
ENST00000677616.1:c.2410A>T	ENSP00000503055.1:p.Ile804Phe
ENST00000677634.1:c.2719A>T	ENSP00000504246.1:p.Ile907Phe
ENST00000677685.1:c.*1944A>T	ENSP00000503407.1:n.*1944A>T
ENST00000677783.1:n.3189A>T
ENST00000677946.1:c.2719A>T	ENSP00000504202.1:p.Ile907Phe
ENST00000678024.1:n.2862A>T
ENST00000678647.1:n.852A>T
ENST00000678694.1:n.2040A>T
ENST00000678804.1:c.2719A>T	ENSP00000503853.1:p.Ile907Phe
ENST00000679100.1:n.906A>T
ENST00000679103.1:c.2719A>T	ENSP00000503151.1:p.Ile907Phe
ENST00000679313.1:c.2719A>T	ENSP00000504512.1:p.Ile907Phe
ENST00000340748.8:c.2719A>T	ENSP00000345739.3:p.Ile907Phe
ENST00000359526.8:c.2767A>T	ENSP00000352516.3:p.Ile923Phe
ENST00000540357.5:c.1711A>T	ENSP00000440457.2:p.Ile571Phe
ENST00000592705.5:c.*2457A>T	ENSP00000466657.1:n.*2457A>T
NM_001130823.1:c.2767A>T , LRG_362t1:c.2767A>T	NP_001124295.1:p.Ile923Phe
NM_001379.2:c.2719A>T	NP_001370.1:p.Ile907Phe
XM_011527772.1:c.2767A>T	XP_011526074.1:p.Ile923Phe
XM_011527773.1:c.2719A>T	XP_011526075.1:p.Ile907Phe
XM_011527774.1:c.2356A>T	XP_011526076.1:p.Ile786Phe
NM_001130823.2:c.2767A>T	NP_001124295.1:p.Ile923Phe
NM_001318730.1:c.2719A>T	NP_001305659.1:p.Ile907Phe
NM_001318731.1:c.2404A>T	NP_001305660.1:p.Ile802Phe
NM_001379.3:c.2719A>T	NP_001370.1:p.Ile907Phe
NM_001130823.3:c.2767A>T MANE Select	NP_001124295.1:p.Ile923Phe
NM_001318730.2:c.2719A>T	NP_001305659.1:p.Ile907Phe
NM_001318731.2:c.2404A>T	NP_001305660.1:p.Ile802Phe
NM_001379.4:c.2719A>T	NP_001370.1:p.Ile907Phe