Canonical Allele Identifier: CA9188842

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 377786
• ClinVar RCV Id: RCV000421267 ; RCV001727715 ; RCV002058896
• dbSNP Id: rs77954383
• ExAC: 19:10292698 A / G
• gnomAD v2: 19-10292698-A-G
• gnomAD v3: 19-10182022-A-G
• gnomAD v4: 19-10182022-A-G
• MyVariant Identifiers: chr19:g.10292698A>G (hg19) ; chr19:g.10182022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10182022A>G , CM000681.2:g.10182022A>G	GRCh38
NC_000019.9:g.10292698A>G , CM000681.1:g.10292698A>G	GRCh37
NC_000019.8:g.10153698A>G	NCBI36
NG_028016.3:g.54265T>C , LRG_362:g.54265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.117+19T>C MANE Select	ENSP00000352516.3:n.117+19T>C
ENST00000676610.1:c.117+19T>C	ENSP00000504236.1:n.117+19T>C
ENST00000676820.1:n.173+19T>C
ENST00000677013.1:c.117+19T>C	ENSP00000503135.1:n.117+19T>C
ENST00000677250.1:c.117+19T>C	ENSP00000502894.1:n.117+19T>C
ENST00000677634.1:c.117+19T>C	ENSP00000504246.1:n.117+19T>C
ENST00000677685.1:c.117+19T>C	ENSP00000503407.1:n.117+19T>C
ENST00000677946.1:c.117+19T>C	ENSP00000504202.1:n.117+19T>C
ENST00000678804.1:c.117+19T>C	ENSP00000503853.1:n.117+19T>C
ENST00000679103.1:c.117+19T>C	ENSP00000503151.1:n.117+19T>C
ENST00000679313.1:c.117+19T>C	ENSP00000504512.1:n.117+19T>C
ENST00000340748.8:c.117+19T>C	ENSP00000345739.3:n.117+19T>C
ENST00000359526.8:c.117+19T>C	ENSP00000352516.3:n.117+19T>C
ENST00000540357.5:c.-560-4658T>C	ENSP00000440457.2:n.-560-4658T>C
ENST00000586086.1:n.274+19T>C
ENST00000586800.5:c.-247+19T>C	ENSP00000465555.1:n.-247+19T>C
ENST00000586988.5:c.117+19T>C	ENSP00000464958.1:n.117+19T>C
ENST00000588118.5:c.282+19T>C	ENSP00000465223.1:n.282+19T>C
ENST00000588952.5:c.-247+19T>C	ENSP00000467050.1:n.-247+19T>C
ENST00000592054.5:c.-247+19T>C	ENSP00000468359.1:n.-247+19T>C
ENST00000592342.5:c.-247+19T>C	ENSP00000465993.1:n.-247+19T>C
ENST00000592705.5:c.117+19T>C	ENSP00000466657.1:n.117+19T>C
NM_001130823.1:c.117+19T>C , LRG_362t1:c.117+19T>C	NP_001124295.1:n.117+19T>C
NM_001379.2:c.117+19T>C	NP_001370.1:n.117+19T>C
XM_011527772.1:c.117+19T>C	XP_011526074.1:n.117+19T>C
XM_011527773.1:c.117+19T>C	XP_011526075.1:n.117+19T>C
XM_011527774.1:c.-247+19T>C	XP_011526076.1:n.-247+19T>C
NM_001130823.2:c.117+19T>C	NP_001124295.1:n.117+19T>C
NM_001318730.1:c.117+19T>C	NP_001305659.1:n.117+19T>C
NM_001318731.1:c.-207+19T>C	NP_001305660.1:n.-207+19T>C
NM_001379.3:c.117+19T>C	NP_001370.1:n.117+19T>C
NM_001130823.3:c.117+19T>C MANE Select	NP_001124295.1:n.117+19T>C
NM_001318730.2:c.117+19T>C	NP_001305659.1:n.117+19T>C
NM_001318731.2:c.-207+19T>C	NP_001305660.1:n.-207+19T>C
NM_001379.4:c.117+19T>C	NP_001370.1:n.117+19T>C