Canonical Allele Identifier: CA2322280479
Community Standard Title: NM_001130823.3(DNMT1):c.4773+383C=
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10135353G= , CM000681.2:g.10135353G= GRCh38
NC_000019.9:g.10246029G= , CM000681.1:g.10246029G= GRCh37
NC_000019.8:g.10107029G= NCBI36
NG_028016.3:g.100934C= , LRG_362:g.100934C=

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.4773+383C= MANE Select NP_001124295.1:n.4773+383C=
ENST00000359526.9:c.4773+383C= MANE Select ENSP00000352516.3:n.4773+383C=
NM_001130823.1:c.4773+383C= , LRG_362t1:c.4773+383C= NP_001124295.1:n.4773+383C=
NM_001130823.2:c.4773+383C= NP_001124295.1:n.4773+383C=
NM_001318730.1:c.4734+383C= NP_001305659.1:n.4734+383C=
NM_001318730.2:c.4734+383C= NP_001305659.1:n.4734+383C=
NM_001318731.1:c.4410+383C= NP_001305660.1:n.4410+383C=
NM_001318731.2:c.4410+383C= NP_001305660.1:n.4410+383C=
NM_001379.2:c.4725+383C= NP_001370.1:n.4725+383C=
NM_001379.3:c.4725+383C= NP_001370.1:n.4725+383C=
NM_001379.4:c.4725+383C= NP_001370.1:n.4725+383C=
ENST00000340748.8:c.4725+383C= ENSP00000345739.3:n.4725+383C=
ENST00000359526.8:c.4773+383C= ENSP00000352516.3:n.4773+383C=
ENST00000540357.5:c.3717+383C= ENSP00000440457.2:n.3717+383C=
ENST00000586588.5:n.2646+383C=
ENST00000586667.2:n.2808+383C=
ENST00000588913.5:c.1349+86C=
ENST00000589351.6:n.3959+383C=
ENST00000591798.5:n.79+86C=
ENST00000592705.5:c.*4463+383C= ENSP00000466657.1:n.*4463+383C=
ENST00000676604.1:n.4385+383C=
ENST00000676610.1:c.*266C= ENSP00000504236.1:n.*266C=
ENST00000676820.1:n.5619+383C=
ENST00000676868.1:n.5409+383C=
ENST00000677013.1:c.*4415+383C= ENSP00000503135.1:n.*4415+383C=
ENST00000677038.1:n.1321+383C=
ENST00000677250.1:c.*3845+383C= ENSP00000502894.1:n.*3845+383C=
ENST00000677616.1:c.*995+383C= ENSP00000503055.1:n.*995+383C=
ENST00000677634.1:c.*1328+383C= ENSP00000504246.1:n.*1328+383C=
ENST00000677685.1:c.*3950+383C= ENSP00000503407.1:n.*3950+383C=
ENST00000677783.1:n.6033+383C=
ENST00000677946.1:c.4725+383C= ENSP00000504202.1:n.4725+383C=
ENST00000678024.1:n.5706+383C=
ENST00000678107.1:n.1768+383C=
ENST00000678239.1:n.2009C=
ENST00000678647.1:n.2867+383C=
ENST00000678694.1:n.4046+383C=
ENST00000678804.1:c.4734+383C= ENSP00000503853.1:n.4734+383C=
ENST00000678851.1:n.1150C=
ENST00000678957.1:n.2437+383C=
ENST00000679100.1:n.2912+383C=
ENST00000679103.1:c.4725+383C= ENSP00000503151.1:n.4725+383C=
ENST00000679313.1:c.4734+383C= ENSP00000504512.1:n.4734+383C=
XM_011527772.1:c.4782+383C= XP_011526074.1:n.4782+383C=
XM_011527773.1:c.4734+383C= XP_011526075.1:n.4734+383C=
XM_011527774.1:c.4371+383C= XP_011526076.1:n.4371+383C=