Canonical Allele Identifier: CA631447992
Community Standard Title: NM_001130823.3(DNMT1):c.4864+18A>G
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10134199T>C , CM000681.2:g.10134199T>C GRCh38
NC_000019.9:g.10244875T>C , CM000681.1:g.10244875T>C GRCh37
NC_000019.8:g.10105875T>C NCBI36
NG_028016.3:g.102088A>G , LRG_362:g.102088A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.4864+18A>G MANE Select NP_001124295.1:n.4864+18A>G
ENST00000359526.9:c.4864+18A>G MANE Select ENSP00000352516.3:n.4864+18A>G
NM_001130823.1:c.4864+18A>G , LRG_362t1:c.4864+18A>G NP_001124295.1:n.4864+18A>G
NM_001130823.2:c.4864+18A>G NP_001124295.1:n.4864+18A>G
NM_001318730.1:c.4825+18A>G NP_001305659.1:n.4825+18A>G
NM_001318730.2:c.4825+18A>G NP_001305659.1:n.4825+18A>G
NM_001318731.1:c.4501+18A>G NP_001305660.1:n.4501+18A>G
NM_001318731.2:c.4501+18A>G NP_001305660.1:n.4501+18A>G
NM_001379.2:c.4816+18A>G NP_001370.1:n.4816+18A>G
NM_001379.3:c.4816+18A>G NP_001370.1:n.4816+18A>G
NM_001379.4:c.4816+18A>G NP_001370.1:n.4816+18A>G
ENST00000340748.8:c.4816+18A>G ENSP00000345739.3:n.4816+18A>G
ENST00000359526.8:c.4864+18A>G ENSP00000352516.3:n.4864+18A>G
ENST00000540357.5:c.3808+18A>G ENSP00000440457.2:n.3808+18A>G
ENST00000586588.5:n.2737+18A>G
ENST00000586667.2:n.2899+18A>G
ENST00000588913.5:c.1440+18A>G
ENST00000589351.6:n.4050+18A>G
ENST00000591798.5:n.170+18A>G
ENST00000592705.5:c.*4554+18A>G ENSP00000466657.1:n.*4554+18A>G
ENST00000676604.1:n.4476+18A>G
ENST00000676610.1:c.*1420A>G ENSP00000504236.1:n.*1420A>G
ENST00000676820.1:n.5710+18A>G
ENST00000676868.1:n.5500+18A>G
ENST00000677013.1:c.*4506+18A>G ENSP00000503135.1:n.*4506+18A>G
ENST00000677038.1:n.1412+18A>G
ENST00000677135.1:n.345+18A>G
ENST00000677250.1:c.*3936+18A>G ENSP00000502894.1:n.*3936+18A>G
ENST00000677616.1:c.*1086+18A>G ENSP00000503055.1:n.*1086+18A>G
ENST00000677634.1:c.*1419+18A>G ENSP00000504246.1:n.*1419+18A>G
ENST00000677685.1:c.*4041+18A>G ENSP00000503407.1:n.*4041+18A>G
ENST00000677783.1:n.6124+18A>G
ENST00000677946.1:c.4834A>G ENSP00000504202.1:p.Arg1612Gly
ENST00000678024.1:n.5797+18A>G
ENST00000678107.1:n.1859+18A>G
ENST00000678647.1:n.2958+18A>G
ENST00000678694.1:n.4137+18A>G
ENST00000678804.1:c.4843A>G ENSP00000503853.1:p.Arg1615Gly
ENST00000678851.1:n.2304A>G
ENST00000678957.1:n.2528+18A>G
ENST00000679100.1:n.3003+18A>G
ENST00000679103.1:c.4726-498A>G ENSP00000503151.1:n.4726-498A>G
ENST00000679313.1:c.4735-498A>G ENSP00000504512.1:n.4735-498A>G
XM_011527772.1:c.4873+18A>G XP_011526074.1:n.4873+18A>G
XM_011527773.1:c.4825+18A>G XP_011526075.1:n.4825+18A>G
XM_011527774.1:c.4462+18A>G XP_011526076.1:n.4462+18A>G