Canonical Allele Identifier: CA403935092
Community Standard Title: NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154712T>C , CM000681.2:g.10154712T>C GRCh38
NC_000019.9:g.10265388T>C , CM000681.1:g.10265388T>C GRCh37
NC_000019.8:g.10126388T>C NCBI36
NG_028016.3:g.81575A>G , LRG_362:g.81575A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.1706A>G MANE Select NP_001124295.1:p.His569Arg
ENST00000359526.9:c.1706A>G MANE Select ENSP00000352516.3:p.His569Arg
NM_001130823.1:c.1706A>G , LRG_362t1:c.1706A>G NP_001124295.1:p.His569Arg
NM_001130823.2:c.1706A>G NP_001124295.1:p.His569Arg
NM_001318730.1:c.1658A>G NP_001305659.1:p.His553Arg
NM_001318730.2:c.1658A>G NP_001305659.1:p.His553Arg
NM_001318731.1:c.1343A>G NP_001305660.1:p.His448Arg
NM_001318731.2:c.1343A>G NP_001305660.1:p.His448Arg
NM_001379.2:c.1658A>G NP_001370.1:p.His553Arg
NM_001379.3:c.1658A>G NP_001370.1:p.His553Arg
NM_001379.4:c.1658A>G NP_001370.1:p.His553Arg
ENST00000340748.8:c.1658A>G ENSP00000345739.3:p.His553Arg
ENST00000359526.8:c.1706A>G ENSP00000352516.3:p.His569Arg
ENST00000540357.5:c.650A>G ENSP00000440457.2:p.His217Arg
ENST00000585843.1:n.863A>G
ENST00000586799.1:c.92A>G
ENST00000592705.5:c.*1396A>G ENSP00000466657.1:n.*1396A>G
ENST00000676604.1:n.1318A>G
ENST00000676610.1:c.1658A>G ENSP00000504236.1:p.His553Arg
ENST00000676820.1:n.1714A>G
ENST00000676868.1:n.2342A>G
ENST00000677013.1:c.*1348A>G ENSP00000503135.1:n.*1348A>G
ENST00000677250.1:c.*778A>G ENSP00000502894.1:n.*778A>G
ENST00000677616.1:c.1349A>G ENSP00000503055.1:p.His450Arg
ENST00000677634.1:c.1658A>G ENSP00000504246.1:p.His553Arg
ENST00000677685.1:c.*883A>G ENSP00000503407.1:n.*883A>G
ENST00000677783.1:n.2128A>G
ENST00000677946.1:c.1658A>G ENSP00000504202.1:p.His553Arg
ENST00000678024.1:n.1801A>G
ENST00000678694.1:n.979A>G
ENST00000678804.1:c.1658A>G ENSP00000503853.1:p.His553Arg
ENST00000679103.1:c.1658A>G ENSP00000503151.1:p.His553Arg
ENST00000679313.1:c.1658A>G ENSP00000504512.1:p.His553Arg
XM_011527772.1:c.1706A>G XP_011526074.1:p.His569Arg
XM_011527773.1:c.1658A>G XP_011526075.1:p.His553Arg
XM_011527774.1:c.1295A>G XP_011526076.1:p.His432Arg