Canonical Allele Identifier: CA9188160
Community Standard Title: NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154326G>A , CM000681.2:g.10154326G>A GRCh38
NC_000019.9:g.10265002G>A , CM000681.1:g.10265002G>A GRCh37
NC_000019.8:g.10126002G>A NCBI36
NG_028016.3:g.81961C>T , LRG_362:g.81961C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.1986C>T MANE Select NP_001124295.1:p.Asn662=
ENST00000359526.9:c.1986C>T MANE Select ENSP00000352516.3:p.Asn662=
NM_001130823.1:c.1986C>T , LRG_362t1:c.1986C>T NP_001124295.1:p.Asn662=
NM_001130823.2:c.1986C>T NP_001124295.1:p.Asn662=
NM_001318730.1:c.1938C>T NP_001305659.1:p.Asn646=
NM_001318730.2:c.1938C>T NP_001305659.1:p.Asn646=
NM_001318731.1:c.1623C>T NP_001305660.1:p.Asn541=
NM_001318731.2:c.1623C>T NP_001305660.1:p.Asn541=
NM_001379.2:c.1938C>T NP_001370.1:p.Asn646=
NM_001379.3:c.1938C>T NP_001370.1:p.Asn646=
NM_001379.4:c.1938C>T NP_001370.1:p.Asn646=
ENST00000340748.8:c.1938C>T ENSP00000345739.3:p.Asn646=
ENST00000359526.8:c.1986C>T ENSP00000352516.3:p.Asn662=
ENST00000540357.5:c.930C>T ENSP00000440457.2:p.Asn310=
ENST00000586799.1:c.372C>T
ENST00000592705.5:c.*1676C>T ENSP00000466657.1:n.*1676C>T
ENST00000676604.1:n.1598C>T
ENST00000676610.1:c.1938C>T ENSP00000504236.1:p.Asn646=
ENST00000676820.1:n.1994C>T
ENST00000676868.1:n.2622C>T
ENST00000677013.1:c.*1628C>T ENSP00000503135.1:n.*1628C>T
ENST00000677250.1:c.*1058C>T ENSP00000502894.1:n.*1058C>T
ENST00000677616.1:c.1629C>T ENSP00000503055.1:p.Asn543=
ENST00000677634.1:c.1938C>T ENSP00000504246.1:p.Asn646=
ENST00000677685.1:c.*1163C>T ENSP00000503407.1:n.*1163C>T
ENST00000677783.1:n.2408C>T
ENST00000677946.1:c.1938C>T ENSP00000504202.1:p.Asn646=
ENST00000678024.1:n.2081C>T
ENST00000678694.1:n.1259C>T
ENST00000678804.1:c.1938C>T ENSP00000503853.1:p.Asn646=
ENST00000679103.1:c.1938C>T ENSP00000503151.1:p.Asn646=
ENST00000679313.1:c.1938C>T ENSP00000504512.1:p.Asn646=
XM_011527772.1:c.1986C>T XP_011526074.1:p.Asn662=
XM_011527773.1:c.1938C>T XP_011526075.1:p.Asn646=
XM_011527774.1:c.1575C>T XP_011526076.1:p.Asn525=