Canonical Allele Identifier: CA9187687
Community Standard Title: NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10140141G>A , CM000681.2:g.10140141G>A GRCh38
NC_000019.9:g.10250817G>A , CM000681.1:g.10250817G>A GRCh37
NC_000019.8:g.10111817G>A NCBI36
NG_028016.3:g.96146C>T , LRG_362:g.96146C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.3711C>T MANE Select NP_001124295.1:p.Cys1237=
ENST00000359526.9:c.3711C>T MANE Select ENSP00000352516.3:p.Cys1237=
NM_001130823.1:c.3711C>T , LRG_362t1:c.3711C>T NP_001124295.1:p.Cys1237=
NM_001130823.2:c.3711C>T NP_001124295.1:p.Cys1237=
NM_001318730.1:c.3663C>T NP_001305659.1:p.Cys1221=
NM_001318730.2:c.3663C>T NP_001305659.1:p.Cys1221=
NM_001318731.1:c.3348C>T NP_001305660.1:p.Cys1116=
NM_001318731.2:c.3348C>T NP_001305660.1:p.Cys1116=
NM_001379.2:c.3663C>T NP_001370.1:p.Cys1221=
NM_001379.3:c.3663C>T NP_001370.1:p.Cys1221=
NM_001379.4:c.3663C>T NP_001370.1:p.Cys1221=
ENST00000340748.8:c.3663C>T ENSP00000345739.3:p.Cys1221=
ENST00000359526.8:c.3711C>T ENSP00000352516.3:p.Cys1237=
ENST00000540357.5:c.2655C>T ENSP00000440457.2:p.Cys885=
ENST00000586588.5:n.1584C>T
ENST00000586667.2:n.1746C>T
ENST00000587197.1:n.55C>T
ENST00000589351.6:n.1599C>T
ENST00000589538.5:n.544-96C>T
ENST00000592705.5:c.*3401C>T ENSP00000466657.1:n.*3401C>T
ENST00000676604.1:n.3323C>T
ENST00000676610.1:c.3663C>T ENSP00000504236.1:p.Cys1221=
ENST00000676820.1:n.4557C>T
ENST00000676868.1:n.4347C>T
ENST00000677013.1:c.*3353C>T ENSP00000503135.1:n.*3353C>T
ENST00000677250.1:c.*2783C>T ENSP00000502894.1:n.*2783C>T
ENST00000677616.1:c.3354C>T ENSP00000503055.1:p.Cys1118=
ENST00000677634.1:c.*266C>T ENSP00000504246.1:n.*266C>T
ENST00000677685.1:c.*2888C>T ENSP00000503407.1:n.*2888C>T
ENST00000677783.1:n.4971C>T
ENST00000677946.1:c.3663C>T ENSP00000504202.1:p.Cys1221=
ENST00000678024.1:n.4644C>T
ENST00000678107.1:n.478C>T
ENST00000678239.1:n.327C>T
ENST00000678647.1:n.1796C>T
ENST00000678694.1:n.2984C>T
ENST00000678804.1:c.3663C>T ENSP00000503853.1:p.Cys1221=
ENST00000678957.1:n.1147C>T
ENST00000679100.1:n.1850C>T
ENST00000679103.1:c.3663C>T ENSP00000503151.1:p.Cys1221=
ENST00000679313.1:c.3663C>T ENSP00000504512.1:p.Cys1221=
XM_011527772.1:c.3711C>T XP_011526074.1:p.Cys1237=
XM_011527773.1:c.3663C>T XP_011526075.1:p.Cys1221=
XM_011527774.1:c.3300C>T XP_011526076.1:p.Cys1100=