Canonical Allele Identifier: CA403976161
Community Standard Title: NM_001130823.3(DNMT1):c.2858A>G (p.Asp953Gly)
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10146387T>C , CM000681.2:g.10146387T>C GRCh38
NC_000019.9:g.10257063T>C , CM000681.1:g.10257063T>C GRCh37
NC_000019.8:g.10118063T>C NCBI36
NG_028016.3:g.89900A>G , LRG_362:g.89900A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130823.3:c.2858A>G MANE Select NP_001124295.1:p.Asp953Gly
ENST00000359526.9:c.2858A>G MANE Select ENSP00000352516.3:p.Asp953Gly
NM_001130823.1:c.2858A>G , LRG_362t1:c.2858A>G NP_001124295.1:p.Asp953Gly
NM_001130823.2:c.2858A>G NP_001124295.1:p.Asp953Gly
NM_001318730.1:c.2810A>G NP_001305659.1:p.Asp937Gly
NM_001318730.2:c.2810A>G NP_001305659.1:p.Asp937Gly
NM_001318731.1:c.2495A>G NP_001305660.1:p.Asp832Gly
NM_001318731.2:c.2495A>G NP_001305660.1:p.Asp832Gly
NM_001379.2:c.2810A>G NP_001370.1:p.Asp937Gly
NM_001379.3:c.2810A>G NP_001370.1:p.Asp937Gly
NM_001379.4:c.2810A>G NP_001370.1:p.Asp937Gly
ENST00000340748.8:c.2810A>G ENSP00000345739.3:p.Asp937Gly
ENST00000359526.8:c.2858A>G ENSP00000352516.3:p.Asp953Gly
ENST00000540357.5:c.1802A>G ENSP00000440457.2:p.Asp601Gly
ENST00000586667.2:n.893A>G
ENST00000592705.5:c.*2548A>G ENSP00000466657.1:n.*2548A>G
ENST00000676604.1:n.2470A>G
ENST00000676610.1:c.2810A>G ENSP00000504236.1:p.Asp937Gly
ENST00000676820.1:n.2866A>G
ENST00000676868.1:n.3494A>G
ENST00000677013.1:c.*2500A>G ENSP00000503135.1:n.*2500A>G
ENST00000677250.1:c.*1930A>G ENSP00000502894.1:n.*1930A>G
ENST00000677616.1:c.2501A>G ENSP00000503055.1:p.Asp834Gly
ENST00000677634.1:c.2810A>G ENSP00000504246.1:p.Asp937Gly
ENST00000677685.1:c.*2035A>G ENSP00000503407.1:n.*2035A>G
ENST00000677783.1:n.3280A>G
ENST00000677946.1:c.2810A>G ENSP00000504202.1:p.Asp937Gly
ENST00000678024.1:n.2953A>G
ENST00000678647.1:n.943A>G
ENST00000678694.1:n.2131A>G
ENST00000678804.1:c.2810A>G ENSP00000503853.1:p.Asp937Gly
ENST00000679100.1:n.997A>G
ENST00000679103.1:c.2810A>G ENSP00000503151.1:p.Asp937Gly
ENST00000679313.1:c.2810A>G ENSP00000504512.1:p.Asp937Gly
XM_011527772.1:c.2858A>G XP_011526074.1:p.Asp953Gly
XM_011527773.1:c.2810A>G XP_011526075.1:p.Asp937Gly
XM_011527774.1:c.2447A>G XP_011526076.1:p.Asp816Gly