Canonical Allele Identifier: CA403974496
Community Standard Title: NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10141188G>A , CM000681.2:g.10141188G>A GRCh38
NC_000019.9:g.10251864G>A , CM000681.1:g.10251864G>A GRCh37
NC_000019.8:g.10112864G>A NCBI36
NG_028016.3:g.95099C>T , LRG_362:g.95099C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.3311C>T MANE Select NP_001124295.1:p.Ala1104Val
ENST00000359526.9:c.3311C>T MANE Select ENSP00000352516.3:p.Ala1104Val
NM_001130823.1:c.3311C>T , LRG_362t1:c.3311C>T NP_001124295.1:p.Ala1104Val
NM_001130823.2:c.3311C>T NP_001124295.1:p.Ala1104Val
NM_001318730.1:c.3263C>T NP_001305659.1:p.Ala1088Val
NM_001318730.2:c.3263C>T NP_001305659.1:p.Ala1088Val
NM_001318731.1:c.2948C>T NP_001305660.1:p.Ala983Val
NM_001318731.2:c.2948C>T NP_001305660.1:p.Ala983Val
NM_001379.2:c.3263C>T NP_001370.1:p.Ala1088Val
NM_001379.3:c.3263C>T NP_001370.1:p.Ala1088Val
NM_001379.4:c.3263C>T NP_001370.1:p.Ala1088Val
ENST00000340748.8:c.3263C>T ENSP00000345739.3:p.Ala1088Val
ENST00000359526.8:c.3311C>T ENSP00000352516.3:p.Ala1104Val
ENST00000540357.5:c.2255C>T ENSP00000440457.2:p.Ala752Val
ENST00000586588.5:n.1184C>T
ENST00000586667.2:n.1346C>T
ENST00000587604.1:n.49C>T
ENST00000589091.1:n.259C>T
ENST00000589351.5:n.385C>T
ENST00000589351.6:n.747C>T
ENST00000589538.5:n.331C>T
ENST00000592705.5:c.*3001C>T ENSP00000466657.1:n.*3001C>T
ENST00000593049.5:n.273C>T
ENST00000676604.1:n.2923C>T
ENST00000676610.1:c.3263C>T ENSP00000504236.1:p.Ala1088Val
ENST00000676820.1:n.4157C>T
ENST00000676868.1:n.3947C>T
ENST00000677013.1:c.*2953C>T ENSP00000503135.1:n.*2953C>T
ENST00000677250.1:c.*2383C>T ENSP00000502894.1:n.*2383C>T
ENST00000677616.1:c.2954C>T ENSP00000503055.1:p.Ala985Val
ENST00000677634.1:c.3211C>T ENSP00000504246.1:p.Pro1071Ser
ENST00000677685.1:c.*2488C>T ENSP00000503407.1:n.*2488C>T
ENST00000677783.1:n.4571C>T
ENST00000677946.1:c.3263C>T ENSP00000504202.1:p.Ala1088Val
ENST00000678024.1:n.4244C>T
ENST00000678647.1:n.1396C>T
ENST00000678694.1:n.2584C>T
ENST00000678804.1:c.3263C>T ENSP00000503853.1:p.Ala1088Val
ENST00000678957.1:n.747C>T
ENST00000679100.1:n.1450C>T
ENST00000679103.1:c.3263C>T ENSP00000503151.1:p.Ala1088Val
ENST00000679313.1:c.3263C>T ENSP00000504512.1:p.Ala1088Val
XM_011527772.1:c.3311C>T XP_011526074.1:p.Ala1104Val
XM_011527773.1:c.3263C>T XP_011526075.1:p.Ala1088Val
XM_011527774.1:c.2900C>T XP_011526076.1:p.Ala967Val