Canonical Allele Identifier: CA9188197

Gene: DNMT1

Linked Data

• dbSNP Id: rs367621601
• ExAC: 19:10265213 T / C
• gnomAD v2: 19-10265213-T-C
• gnomAD v3: 19-10154537-T-C
• gnomAD v4: 19-10154537-T-C
• MyVariant Identifiers: chr19:g.10265213T>C (hg19) ; chr19:g.10154537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10154537T>C , CM000681.2:g.10154537T>C	GRCh38
NC_000019.9:g.10265213T>C , CM000681.1:g.10265213T>C	GRCh37
NC_000019.8:g.10126213T>C	NCBI36
NG_028016.3:g.81750A>G , LRG_362:g.81750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1832+49A>G MANE Select	ENSP00000352516.3:n.1832+49A>G
ENST00000676604.1:n.1444+49A>G
ENST00000676610.1:c.1784+49A>G	ENSP00000504236.1:n.1784+49A>G
ENST00000676820.1:n.1840+49A>G
ENST00000676868.1:n.2468+49A>G
ENST00000677013.1:c.*1474+49A>G	ENSP00000503135.1:n.*1474+49A>G
ENST00000677250.1:c.*904+49A>G	ENSP00000502894.1:n.*904+49A>G
ENST00000677616.1:c.1475+49A>G	ENSP00000503055.1:n.1475+49A>G
ENST00000677634.1:c.1784+49A>G	ENSP00000504246.1:n.1784+49A>G
ENST00000677685.1:c.*1009+49A>G	ENSP00000503407.1:n.*1009+49A>G
ENST00000677783.1:n.2254+49A>G
ENST00000677946.1:c.1784+49A>G	ENSP00000504202.1:n.1784+49A>G
ENST00000678024.1:n.1927+49A>G
ENST00000678694.1:n.1105+49A>G
ENST00000678804.1:c.1784+49A>G	ENSP00000503853.1:n.1784+49A>G
ENST00000679103.1:c.1784+49A>G	ENSP00000503151.1:n.1784+49A>G
ENST00000679313.1:c.1784+49A>G	ENSP00000504512.1:n.1784+49A>G
ENST00000340748.8:c.1784+49A>G	ENSP00000345739.3:n.1784+49A>G
ENST00000359526.8:c.1832+49A>G	ENSP00000352516.3:n.1832+49A>G
ENST00000540357.5:c.776+49A>G	ENSP00000440457.2:n.776+49A>G
ENST00000586799.1:c.218+49A>G
ENST00000592705.5:c.*1522+49A>G	ENSP00000466657.1:n.*1522+49A>G
NM_001130823.1:c.1832+49A>G , LRG_362t1:c.1832+49A>G	NP_001124295.1:n.1832+49A>G
NM_001379.2:c.1784+49A>G	NP_001370.1:n.1784+49A>G
XM_011527772.1:c.1832+49A>G	XP_011526074.1:n.1832+49A>G
XM_011527773.1:c.1784+49A>G	XP_011526075.1:n.1784+49A>G
XM_011527774.1:c.1421+49A>G	XP_011526076.1:n.1421+49A>G
NM_001130823.2:c.1832+49A>G	NP_001124295.1:n.1832+49A>G
NM_001318730.1:c.1784+49A>G	NP_001305659.1:n.1784+49A>G
NM_001318731.1:c.1469+49A>G	NP_001305660.1:n.1469+49A>G
NM_001379.3:c.1784+49A>G	NP_001370.1:n.1784+49A>G
NM_001130823.3:c.1832+49A>G MANE Select	NP_001124295.1:n.1832+49A>G
NM_001318730.2:c.1784+49A>G	NP_001305659.1:n.1784+49A>G
NM_001318731.2:c.1469+49A>G	NP_001305660.1:n.1469+49A>G
NM_001379.4:c.1784+49A>G	NP_001370.1:n.1784+49A>G