Canonical Allele Identifier: CA305172863

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 577611
• ClinVar RCV Id: RCV000700412
• dbSNP Id: rs979325432
• gnomAD v4: 19-10156397-G-C
• MyVariant Identifiers: chr19:g.10267073G>C (hg19) ; chr19:g.10156397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156397G>C , CM000681.2:g.10156397G>C	GRCh38
NC_000019.9:g.10267073G>C , CM000681.1:g.10267073G>C	GRCh37
NC_000019.8:g.10128073G>C	NCBI36
NG_028016.3:g.79890C>G , LRG_362:g.79890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1393C>G MANE Select	ENSP00000352516.3:p.Leu465Val
ENST00000676604.1:n.1005C>G
ENST00000676610.1:c.1345C>G	ENSP00000504236.1:p.Leu449Val
ENST00000676820.1:n.1401C>G
ENST00000676868.1:n.2029C>G
ENST00000677013.1:c.*1035C>G	ENSP00000503135.1:n.*1035C>G
ENST00000677250.1:c.*465C>G	ENSP00000502894.1:n.*465C>G
ENST00000677616.1:c.1036C>G	ENSP00000503055.1:p.Leu346Val
ENST00000677634.1:c.1345C>G	ENSP00000504246.1:p.Leu449Val
ENST00000677685.1:c.*570C>G	ENSP00000503407.1:n.*570C>G
ENST00000677783.1:n.1815C>G
ENST00000677946.1:c.1345C>G	ENSP00000504202.1:p.Leu449Val
ENST00000678024.1:n.1488C>G
ENST00000678694.1:n.666C>G
ENST00000678804.1:c.1345C>G	ENSP00000503853.1:p.Leu449Val
ENST00000679103.1:c.1345C>G	ENSP00000503151.1:p.Leu449Val
ENST00000679313.1:c.1345C>G	ENSP00000504512.1:p.Leu449Val
ENST00000340748.8:c.1345C>G	ENSP00000345739.3:p.Leu449Val
ENST00000359526.8:c.1393C>G	ENSP00000352516.3:p.Leu465Val
ENST00000540357.5:c.337C>G	ENSP00000440457.2:p.Leu113Val
ENST00000585843.1:n.550C>G
ENST00000592705.5:c.*1083C>G	ENSP00000466657.1:n.*1083C>G
NM_001130823.1:c.1393C>G , LRG_362t1:c.1393C>G	NP_001124295.1:p.Leu465Val
NM_001379.2:c.1345C>G	NP_001370.1:p.Leu449Val
XM_011527772.1:c.1393C>G	XP_011526074.1:p.Leu465Val
XM_011527773.1:c.1345C>G	XP_011526075.1:p.Leu449Val
XM_011527774.1:c.982C>G	XP_011526076.1:p.Leu328Val
NM_001130823.2:c.1393C>G	NP_001124295.1:p.Leu465Val
NM_001318730.1:c.1345C>G	NP_001305659.1:p.Leu449Val
NM_001318731.1:c.1030C>G	NP_001305660.1:p.Leu344Val
NM_001379.3:c.1345C>G	NP_001370.1:p.Leu449Val
NM_001130823.3:c.1393C>G MANE Select	NP_001124295.1:p.Leu465Val
NM_001318730.2:c.1345C>G	NP_001305659.1:p.Leu449Val
NM_001318731.2:c.1030C>G	NP_001305660.1:p.Leu344Val
NM_001379.4:c.1345C>G	NP_001370.1:p.Leu449Val