Canonical Allele Identifier: CA403950203

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 1966305
• ClinVar RCV Id: RCV002745489
• dbSNP Id: rs1476955893
• gnomAD v2: 19-10305529-G-A
• gnomAD v4: 19-10194853-G-A
• COSMIC: COSM4385042
• MyVariant Identifiers: chr19:g.10305529G>A (hg19) ; chr19:g.10194853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10194853G>A , CM000681.2:g.10194853G>A	GRCh38
NC_000019.9:g.10305529G>A , CM000681.1:g.10305529G>A	GRCh37
NC_000019.8:g.10166529G>A	NCBI36
NG_028016.3:g.41434C>T , LRG_362:g.41434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.47C>T MANE Select	ENSP00000352516.3:p.Pro16Leu
ENST00000676610.1:c.47C>T	ENSP00000504236.1:p.Pro16Leu
ENST00000676820.1:n.103C>T
ENST00000677013.1:c.47C>T	ENSP00000503135.1:p.Pro16Leu
ENST00000677250.1:c.47C>T	ENSP00000502894.1:p.Pro16Leu
ENST00000677634.1:c.47C>T	ENSP00000504246.1:p.Pro16Leu
ENST00000677685.1:c.47C>T	ENSP00000503407.1:p.Pro16Leu
ENST00000677946.1:c.47C>T	ENSP00000504202.1:p.Pro16Leu
ENST00000678804.1:c.47C>T	ENSP00000503853.1:p.Pro16Leu
ENST00000679103.1:c.47C>T	ENSP00000503151.1:p.Pro16Leu
ENST00000679313.1:c.47C>T	ENSP00000504512.1:p.Pro16Leu
ENST00000340748.8:c.47C>T	ENSP00000345739.3:p.Pro16Leu
ENST00000359526.8:c.47C>T	ENSP00000352516.3:p.Pro16Leu
ENST00000540357.5:c.-561+90C>T	ENSP00000440457.2:n.-561+90C>T
ENST00000586800.5:c.-284+6021C>T	ENSP00000465555.1:n.-284+6021C>T
ENST00000586988.5:c.47C>T	ENSP00000464958.1:p.Pro16Leu
ENST00000588118.5:c.212C>T	ENSP00000465223.1:p.Pro71Leu
ENST00000588952.5:c.-283-12776C>T	ENSP00000467050.1:n.-283-12776C>T
ENST00000592342.5:c.-283-12776C>T	ENSP00000465993.1:n.-283-12776C>T
ENST00000592705.5:c.47C>T	ENSP00000466657.1:p.Pro16Leu
NM_001130823.1:c.47C>T , LRG_362t1:c.47C>T	NP_001124295.1:p.Pro16Leu
NM_001379.2:c.47C>T	NP_001370.1:p.Pro16Leu
XM_011527772.1:c.47C>T	XP_011526074.1:p.Pro16Leu
XM_011527773.1:c.47C>T	XP_011526075.1:p.Pro16Leu
NM_001130823.2:c.47C>T	NP_001124295.1:p.Pro16Leu
NM_001318730.1:c.47C>T	NP_001305659.1:p.Pro16Leu
NM_001318731.1:c.-277C>T	NP_001305660.1:n.-277C>T
NM_001379.3:c.47C>T	NP_001370.1:p.Pro16Leu
NM_001130823.3:c.47C>T MANE Select	NP_001124295.1:p.Pro16Leu
NM_001318730.2:c.47C>T	NP_001305659.1:p.Pro16Leu
NM_001318731.2:c.-277C>T	NP_001305660.1:n.-277C>T
NM_001379.4:c.47C>T	NP_001370.1:p.Pro16Leu