Canonical Allele Identifier: CA9187738
Community Standard Title: NM_001130823.3(DNMT1):c.3523+6C>T
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10140775G>A , CM000681.2:g.10140775G>A GRCh38
NC_000019.9:g.10251451G>A , CM000681.1:g.10251451G>A GRCh37
NC_000019.8:g.10112451G>A NCBI36
NG_028016.3:g.95512C>T , LRG_362:g.95512C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.3523+6C>T MANE Select NP_001124295.1:n.3523+6C>T
ENST00000359526.9:c.3523+6C>T MANE Select ENSP00000352516.3:n.3523+6C>T
NM_001130823.1:c.3523+6C>T , LRG_362t1:c.3523+6C>T NP_001124295.1:n.3523+6C>T
NM_001130823.2:c.3523+6C>T NP_001124295.1:n.3523+6C>T
NM_001318730.1:c.3475+6C>T NP_001305659.1:n.3475+6C>T
NM_001318730.2:c.3475+6C>T NP_001305659.1:n.3475+6C>T
NM_001318731.1:c.3160+6C>T NP_001305660.1:n.3160+6C>T
NM_001318731.2:c.3160+6C>T NP_001305660.1:n.3160+6C>T
NM_001379.2:c.3475+6C>T NP_001370.1:n.3475+6C>T
NM_001379.3:c.3475+6C>T NP_001370.1:n.3475+6C>T
NM_001379.4:c.3475+6C>T NP_001370.1:n.3475+6C>T
ENST00000340748.8:c.3475+6C>T ENSP00000345739.3:n.3475+6C>T
ENST00000359526.8:c.3523+6C>T ENSP00000352516.3:n.3523+6C>T
ENST00000540357.5:c.2467+6C>T ENSP00000440457.2:n.2467+6C>T
ENST00000586588.5:n.1396+6C>T
ENST00000586667.2:n.1558+6C>T
ENST00000587604.1:n.267C>T
ENST00000589091.1:n.477C>T
ENST00000589351.5:n.597+6C>T
ENST00000589351.6:n.965C>T
ENST00000589538.5:n.543+6C>T
ENST00000592705.5:c.*3213+6C>T ENSP00000466657.1:n.*3213+6C>T
ENST00000593049.5:n.485+6C>T
ENST00000676604.1:n.3135+6C>T
ENST00000676610.1:c.3475+6C>T ENSP00000504236.1:n.3475+6C>T
ENST00000676820.1:n.4369+6C>T
ENST00000676868.1:n.4159+6C>T
ENST00000677013.1:c.*3165+6C>T ENSP00000503135.1:n.*3165+6C>T
ENST00000677250.1:c.*2595+6C>T ENSP00000502894.1:n.*2595+6C>T
ENST00000677616.1:c.3166+6C>T ENSP00000503055.1:n.3166+6C>T
ENST00000677634.1:c.*78+6C>T ENSP00000504246.1:n.*78+6C>T
ENST00000677685.1:c.*2700+6C>T ENSP00000503407.1:n.*2700+6C>T
ENST00000677783.1:n.4783+6C>T
ENST00000677946.1:c.3475+6C>T ENSP00000504202.1:n.3475+6C>T
ENST00000678024.1:n.4456+6C>T
ENST00000678647.1:n.1608+6C>T
ENST00000678694.1:n.2796+6C>T
ENST00000678804.1:c.3475+6C>T ENSP00000503853.1:n.3475+6C>T
ENST00000678957.1:n.959+6C>T
ENST00000679100.1:n.1662+6C>T
ENST00000679103.1:c.3475+6C>T ENSP00000503151.1:n.3475+6C>T
ENST00000679313.1:c.3475+6C>T ENSP00000504512.1:n.3475+6C>T
XM_011527772.1:c.3523+6C>T XP_011526074.1:n.3523+6C>T
XM_011527773.1:c.3475+6C>T XP_011526075.1:n.3475+6C>T
XM_011527774.1:c.3112+6C>T XP_011526076.1:n.3112+6C>T