Canonical Allele Identifier: CA2322289571
Community Standard Title: NM_001130823.3(DNMT1):c.1709C= (p.Ala570=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154709G= , CM000681.2:g.10154709G= GRCh38
NC_000019.9:g.10265385G= , CM000681.1:g.10265385G= GRCh37
NC_000019.8:g.10126385G= NCBI36
NG_028016.3:g.81578C= , LRG_362:g.81578C=

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.1709C= MANE Select NP_001124295.1:p.Ala570=
ENST00000359526.9:c.1709C= MANE Select ENSP00000352516.3:p.Ala570=
NM_001130823.1:c.1709C= , LRG_362t1:c.1709C= NP_001124295.1:p.Ala570=
NM_001130823.2:c.1709C= NP_001124295.1:p.Ala570=
NM_001318730.1:c.1661C= NP_001305659.1:p.Ala554=
NM_001318730.2:c.1661C= NP_001305659.1:p.Ala554=
NM_001318731.1:c.1346C= NP_001305660.1:p.Ala449=
NM_001318731.2:c.1346C= NP_001305660.1:p.Ala449=
NM_001379.2:c.1661C= NP_001370.1:p.Ala554=
NM_001379.3:c.1661C= NP_001370.1:p.Ala554=
NM_001379.4:c.1661C= NP_001370.1:p.Ala554=
ENST00000340748.8:c.1661C= ENSP00000345739.3:p.Ala554=
ENST00000359526.8:c.1709C= ENSP00000352516.3:p.Ala570=
ENST00000540357.5:c.653C= ENSP00000440457.2:p.Ala218=
ENST00000585843.1:n.866C=
ENST00000586799.1:c.95C=
ENST00000592705.5:c.*1399C= ENSP00000466657.1:n.*1399C=
ENST00000676604.1:n.1321C=
ENST00000676610.1:c.1661C= ENSP00000504236.1:p.Ala554=
ENST00000676820.1:n.1717C=
ENST00000676868.1:n.2345C=
ENST00000677013.1:c.*1351C= ENSP00000503135.1:n.*1351C=
ENST00000677250.1:c.*781C= ENSP00000502894.1:n.*781C=
ENST00000677616.1:c.1352C= ENSP00000503055.1:p.Ala451=
ENST00000677634.1:c.1661C= ENSP00000504246.1:p.Ala554=
ENST00000677685.1:c.*886C= ENSP00000503407.1:n.*886C=
ENST00000677783.1:n.2131C=
ENST00000677946.1:c.1661C= ENSP00000504202.1:p.Ala554=
ENST00000678024.1:n.1804C=
ENST00000678694.1:n.982C=
ENST00000678804.1:c.1661C= ENSP00000503853.1:p.Ala554=
ENST00000679103.1:c.1661C= ENSP00000503151.1:p.Ala554=
ENST00000679313.1:c.1661C= ENSP00000504512.1:p.Ala554=
XM_011527772.1:c.1709C= XP_011526074.1:p.Ala570=
XM_011527773.1:c.1661C= XP_011526075.1:p.Ala554=
XM_011527774.1:c.1298C= XP_011526076.1:p.Ala433=