Canonical Allele Identifier: CA2322293299
Community Standard Title: NM_001130823.3(DNMT1):c.979A= (p.Ile327=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10162696T= , CM000681.2:g.10162696T= GRCh38
NC_000019.9:g.10273372T= , CM000681.1:g.10273372T= GRCh37
NC_000019.8:g.10134372T= NCBI36
NG_028016.3:g.73591A= , LRG_362:g.73591A=

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.979A= MANE Select NP_001124295.1:p.Ile327=
ENST00000359526.9:c.979A= MANE Select ENSP00000352516.3:p.Ile327=
NM_001130823.1:c.979A= , LRG_362t1:c.979A= NP_001124295.1:p.Ile327=
NM_001130823.2:c.979A= NP_001124295.1:p.Ile327=
NM_001318730.1:c.931A= NP_001305659.1:p.Ile311=
NM_001318730.2:c.931A= NP_001305659.1:p.Ile311=
NM_001318731.1:c.616A= NP_001305660.1:p.Ile206=
NM_001318731.2:c.616A= NP_001305660.1:p.Ile206=
NM_001379.2:c.931A= NP_001370.1:p.Ile311=
NM_001379.3:c.931A= NP_001370.1:p.Ile311=
NM_001379.4:c.931A= NP_001370.1:p.Ile311=
ENST00000340748.8:c.931A= ENSP00000345739.3:p.Ile311=
ENST00000359526.8:c.979A= ENSP00000352516.3:p.Ile327=
ENST00000540357.5:c.-78A= ENSP00000440457.2:n.-78A=
ENST00000585920.1:n.288A=
ENST00000589349.5:n.162A=
ENST00000591764.1:n.157A=
ENST00000592705.5:c.*669A= ENSP00000466657.1:n.*669A=
ENST00000676604.1:n.591A=
ENST00000676610.1:c.931A= ENSP00000504236.1:p.Ile311=
ENST00000676820.1:n.987A=
ENST00000676868.1:n.1615A=
ENST00000677013.1:c.*621A= ENSP00000503135.1:n.*621A=
ENST00000677250.1:c.*51A= ENSP00000502894.1:n.*51A=
ENST00000677616.1:c.622A= ENSP00000503055.1:p.Ile208=
ENST00000677634.1:c.931A= ENSP00000504246.1:p.Ile311=
ENST00000677685.1:c.*156A= ENSP00000503407.1:n.*156A=
ENST00000677783.1:n.1401A=
ENST00000677946.1:c.931A= ENSP00000504202.1:p.Ile311=
ENST00000678024.1:n.1074A=
ENST00000678694.1:n.252A=
ENST00000678804.1:c.931A= ENSP00000503853.1:p.Ile311=
ENST00000679103.1:c.931A= ENSP00000503151.1:p.Ile311=
ENST00000679313.1:c.931A= ENSP00000504512.1:p.Ile311=
XM_011527772.1:c.979A= XP_011526074.1:p.Ile327=
XM_011527773.1:c.931A= XP_011526075.1:p.Ile311=
XM_011527774.1:c.568A= XP_011526076.1:p.Ile190=