Canonical Allele Identifier: CA9188502

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 327919
• ClinVar RCV Id: RCV000557162 ; RCV000602957 ; RCV002374557 ; RCV003884477
• dbSNP Id: rs143287044
• ExAC: 19:10273374 T / G
• gnomAD v2: 19-10273374-T-G
• gnomAD v3: 19-10162698-T-G
• gnomAD v4: 19-10162698-T-G
• MyVariant Identifiers: chr19:g.10273374T>G (hg19) ; chr19:g.10162698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10162698T>G , CM000681.2:g.10162698T>G	GRCh38
NC_000019.9:g.10273374T>G , CM000681.1:g.10273374T>G	GRCh37
NC_000019.8:g.10134374T>G	NCBI36
NG_028016.3:g.73589A>C , LRG_362:g.73589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.977A>C MANE Select	ENSP00000352516.3:p.Gln326Pro
ENST00000676604.1:n.589A>C
ENST00000676610.1:c.929A>C	ENSP00000504236.1:p.Gln310Pro
ENST00000676820.1:n.985A>C
ENST00000676868.1:n.1613A>C
ENST00000677013.1:c.*619A>C	ENSP00000503135.1:n.*619A>C
ENST00000677250.1:c.*49A>C	ENSP00000502894.1:n.*49A>C
ENST00000677616.1:c.620A>C	ENSP00000503055.1:p.Gln207Pro
ENST00000677634.1:c.929A>C	ENSP00000504246.1:p.Gln310Pro
ENST00000677685.1:c.*154A>C	ENSP00000503407.1:n.*154A>C
ENST00000677783.1:n.1399A>C
ENST00000677946.1:c.929A>C	ENSP00000504202.1:p.Gln310Pro
ENST00000678024.1:n.1072A>C
ENST00000678694.1:n.250A>C
ENST00000678804.1:c.929A>C	ENSP00000503853.1:p.Gln310Pro
ENST00000679103.1:c.929A>C	ENSP00000503151.1:p.Gln310Pro
ENST00000679313.1:c.929A>C	ENSP00000504512.1:p.Gln310Pro
ENST00000340748.8:c.929A>C	ENSP00000345739.3:p.Gln310Pro
ENST00000359526.8:c.977A>C	ENSP00000352516.3:p.Gln326Pro
ENST00000540357.5:c.-80A>C	ENSP00000440457.2:n.-80A>C
ENST00000585920.1:n.286A>C
ENST00000589349.5:n.160A>C
ENST00000591764.1:n.155A>C
ENST00000592705.5:c.*667A>C	ENSP00000466657.1:n.*667A>C
NM_001130823.1:c.977A>C , LRG_362t1:c.977A>C	NP_001124295.1:p.Gln326Pro
NM_001379.2:c.929A>C	NP_001370.1:p.Gln310Pro
XM_011527772.1:c.977A>C	XP_011526074.1:p.Gln326Pro
XM_011527773.1:c.929A>C	XP_011526075.1:p.Gln310Pro
XM_011527774.1:c.566A>C	XP_011526076.1:p.Gln189Pro
NM_001130823.2:c.977A>C	NP_001124295.1:p.Gln326Pro
NM_001318730.1:c.929A>C	NP_001305659.1:p.Gln310Pro
NM_001318731.1:c.614A>C	NP_001305660.1:p.Gln205Pro
NM_001379.3:c.929A>C	NP_001370.1:p.Gln310Pro
NM_001130823.3:c.977A>C MANE Select	NP_001124295.1:p.Gln326Pro
NM_001318730.2:c.929A>C	NP_001305659.1:p.Gln310Pro
NM_001318731.2:c.614A>C	NP_001305660.1:p.Gln205Pro
NM_001379.4:c.929A>C	NP_001370.1:p.Gln310Pro