Canonical Allele Identifier: CA2322293289
Community Standard Title: NM_001130823.3(DNMT1):c.996C= (p.Asp332=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10162679G= , CM000681.2:g.10162679G= GRCh38
NC_000019.9:g.10273355G= , CM000681.1:g.10273355G= GRCh37
NC_000019.8:g.10134355G= NCBI36
NG_028016.3:g.73608C= , LRG_362:g.73608C=

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.996C= MANE Select NP_001124295.1:p.Asp332=
ENST00000359526.9:c.996C= MANE Select ENSP00000352516.3:p.Asp332=
NM_001130823.1:c.996C= , LRG_362t1:c.996C= NP_001124295.1:p.Asp332=
NM_001130823.2:c.996C= NP_001124295.1:p.Asp332=
NM_001318730.1:c.948C= NP_001305659.1:p.Asp316=
NM_001318730.2:c.948C= NP_001305659.1:p.Asp316=
NM_001318731.1:c.633C= NP_001305660.1:p.Asp211=
NM_001318731.2:c.633C= NP_001305660.1:p.Asp211=
NM_001379.2:c.948C= NP_001370.1:p.Asp316=
NM_001379.3:c.948C= NP_001370.1:p.Asp316=
NM_001379.4:c.948C= NP_001370.1:p.Asp316=
ENST00000340748.8:c.948C= ENSP00000345739.3:p.Asp316=
ENST00000359526.8:c.996C= ENSP00000352516.3:p.Asp332=
ENST00000540357.5:c.-61C= ENSP00000440457.2:n.-61C=
ENST00000585920.1:n.305C=
ENST00000589349.5:n.179C=
ENST00000591764.1:n.174C=
ENST00000592705.5:c.*686C= ENSP00000466657.1:n.*686C=
ENST00000676604.1:n.608C=
ENST00000676610.1:c.948C= ENSP00000504236.1:p.Asp316=
ENST00000676820.1:n.1004C=
ENST00000676868.1:n.1632C=
ENST00000677013.1:c.*638C= ENSP00000503135.1:n.*638C=
ENST00000677250.1:c.*68C= ENSP00000502894.1:n.*68C=
ENST00000677616.1:c.639C= ENSP00000503055.1:p.Asp213=
ENST00000677634.1:c.948C= ENSP00000504246.1:p.Asp316=
ENST00000677685.1:c.*173C= ENSP00000503407.1:n.*173C=
ENST00000677783.1:n.1418C=
ENST00000677946.1:c.948C= ENSP00000504202.1:p.Asp316=
ENST00000678024.1:n.1091C=
ENST00000678694.1:n.269C=
ENST00000678804.1:c.948C= ENSP00000503853.1:p.Asp316=
ENST00000679103.1:c.948C= ENSP00000503151.1:p.Asp316=
ENST00000679313.1:c.948C= ENSP00000504512.1:p.Asp316=
XM_011527772.1:c.996C= XP_011526074.1:p.Asp332=
XM_011527773.1:c.948C= XP_011526075.1:p.Asp316=
XM_011527774.1:c.585C= XP_011526076.1:p.Asp195=