Canonical Allele Identifier: CA9187483
Community Standard Title: NM_001130823.3(DNMT1):c.4509C>G (p.Pro1503=)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10136268G>C , CM000681.2:g.10136268G>C GRCh38
NC_000019.9:g.10246944G>C , CM000681.1:g.10246944G>C GRCh37
NC_000019.8:g.10107944G>C NCBI36
NG_028016.3:g.100019C>G , LRG_362:g.100019C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.4509C>G MANE Select NP_001124295.1:p.Pro1503=
ENST00000359526.9:c.4509C>G MANE Select ENSP00000352516.3:p.Pro1503=
NM_001130823.1:c.4509C>G , LRG_362t1:c.4509C>G NP_001124295.1:p.Pro1503=
NM_001130823.2:c.4509C>G NP_001124295.1:p.Pro1503=
NM_001318730.1:c.4470C>G NP_001305659.1:p.Pro1490=
NM_001318730.2:c.4470C>G NP_001305659.1:p.Pro1490=
NM_001318731.1:c.4146C>G NP_001305660.1:p.Pro1382=
NM_001318731.2:c.4146C>G NP_001305660.1:p.Pro1382=
NM_001379.2:c.4461C>G NP_001370.1:p.Pro1487=
NM_001379.3:c.4461C>G NP_001370.1:p.Pro1487=
NM_001379.4:c.4461C>G NP_001370.1:p.Pro1487=
ENST00000340748.8:c.4461C>G ENSP00000345739.3:p.Pro1487=
ENST00000359526.8:c.4509C>G ENSP00000352516.3:p.Pro1503=
ENST00000540357.5:c.3453C>G ENSP00000440457.2:p.Pro1151=
ENST00000586588.5:n.2382C>G
ENST00000586667.2:n.2544C>G
ENST00000588913.5:c.788C>G
ENST00000589351.6:n.3695C>G
ENST00000592705.5:c.*4199C>G ENSP00000466657.1:n.*4199C>G
ENST00000676604.1:n.4121C>G
ENST00000676610.1:c.4461C>G ENSP00000504236.1:p.Pro1487=
ENST00000676820.1:n.5355C>G
ENST00000676868.1:n.5145C>G
ENST00000677013.1:c.*4151C>G ENSP00000503135.1:n.*4151C>G
ENST00000677038.1:n.1057C>G
ENST00000677250.1:c.*3581C>G ENSP00000502894.1:n.*3581C>G
ENST00000677616.1:c.*731C>G ENSP00000503055.1:n.*731C>G
ENST00000677634.1:c.*1064C>G ENSP00000504246.1:n.*1064C>G
ENST00000677685.1:c.*3686C>G ENSP00000503407.1:n.*3686C>G
ENST00000677783.1:n.5769C>G
ENST00000677946.1:c.4461C>G ENSP00000504202.1:p.Pro1487=
ENST00000678024.1:n.5442C>G
ENST00000678107.1:n.1504C>G
ENST00000678239.1:n.1362C>G
ENST00000678647.1:n.2603C>G
ENST00000678694.1:n.3782C>G
ENST00000678804.1:c.4470C>G ENSP00000503853.1:p.Pro1490=
ENST00000678851.1:n.503C>G
ENST00000678957.1:n.2173C>G
ENST00000679100.1:n.2648C>G
ENST00000679103.1:c.4461C>G ENSP00000503151.1:p.Pro1487=
ENST00000679313.1:c.4470C>G ENSP00000504512.1:p.Pro1490=
XM_011527772.1:c.4518C>G XP_011526074.1:p.Pro1506=
XM_011527773.1:c.4470C>G XP_011526075.1:p.Pro1490=
XM_011527774.1:c.4107C>G XP_011526076.1:p.Pro1369=