Canonical Allele Identifier: CA403972761

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 426790
• ClinVar RCV Id: RCV000490070 ; RCV002527032
• dbSNP Id: rs1085307800
• gnomAD v4: 19-10140085-T-C
• MyVariant Identifiers: chr19:g.10250761T>C (hg19) ; chr19:g.10140085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10140085T>C , CM000681.2:g.10140085T>C	GRCh38
NC_000019.9:g.10250761T>C , CM000681.1:g.10250761T>C	GRCh37
NC_000019.8:g.10111761T>C	NCBI36
NG_028016.3:g.96202A>G , LRG_362:g.96202A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.3767A>G MANE Select	ENSP00000352516.3:p.Tyr1256Cys
ENST00000586667.2:n.1802A>G
ENST00000589351.6:n.1655A>G
ENST00000676604.1:n.3379A>G
ENST00000676610.1:c.3719A>G	ENSP00000504236.1:p.Tyr1240Cys
ENST00000676820.1:n.4613A>G
ENST00000676868.1:n.4403A>G
ENST00000677013.1:c.*3409A>G	ENSP00000503135.1:n.*3409A>G
ENST00000677250.1:c.*2839A>G	ENSP00000502894.1:n.*2839A>G
ENST00000677616.1:c.3410A>G	ENSP00000503055.1:p.Tyr1137Cys
ENST00000677634.1:c.*322A>G	ENSP00000504246.1:n.*322A>G
ENST00000677685.1:c.*2944A>G	ENSP00000503407.1:n.*2944A>G
ENST00000677783.1:n.5027A>G
ENST00000677946.1:c.3719A>G	ENSP00000504202.1:p.Tyr1240Cys
ENST00000678024.1:n.4700A>G
ENST00000678107.1:n.534A>G
ENST00000678239.1:n.383A>G
ENST00000678647.1:n.1852A>G
ENST00000678694.1:n.3040A>G
ENST00000678804.1:c.3719A>G	ENSP00000503853.1:p.Tyr1240Cys
ENST00000678957.1:n.1203A>G
ENST00000679100.1:n.1906A>G
ENST00000679103.1:c.3719A>G	ENSP00000503151.1:p.Tyr1240Cys
ENST00000679313.1:c.3719A>G	ENSP00000504512.1:p.Tyr1240Cys
ENST00000340748.8:c.3719A>G	ENSP00000345739.3:p.Tyr1240Cys
ENST00000359526.8:c.3767A>G	ENSP00000352516.3:p.Tyr1256Cys
ENST00000540357.5:c.2711A>G	ENSP00000440457.2:p.Tyr904Cys
ENST00000586588.5:n.1640A>G
ENST00000587197.1:n.111A>G
ENST00000588913.5:c.46A>G
ENST00000589538.5:n.544-40A>G
ENST00000592705.5:c.*3457A>G	ENSP00000466657.1:n.*3457A>G
NM_001130823.1:c.3767A>G , LRG_362t1:c.3767A>G	NP_001124295.1:p.Tyr1256Cys
NM_001379.2:c.3719A>G	NP_001370.1:p.Tyr1240Cys
XM_011527772.1:c.3767A>G	XP_011526074.1:p.Tyr1256Cys
XM_011527773.1:c.3719A>G	XP_011526075.1:p.Tyr1240Cys
XM_011527774.1:c.3356A>G	XP_011526076.1:p.Tyr1119Cys
NM_001130823.2:c.3767A>G	NP_001124295.1:p.Tyr1256Cys
NM_001318730.1:c.3719A>G	NP_001305659.1:p.Tyr1240Cys
NM_001318731.1:c.3404A>G	NP_001305660.1:p.Tyr1135Cys
NM_001379.3:c.3719A>G	NP_001370.1:p.Tyr1240Cys
NM_001130823.3:c.3767A>G MANE Select	NP_001124295.1:p.Tyr1256Cys
NM_001318730.2:c.3719A>G	NP_001305659.1:p.Tyr1240Cys
NM_001318731.2:c.3404A>G	NP_001305660.1:p.Tyr1135Cys
NM_001379.4:c.3719A>G	NP_001370.1:p.Tyr1240Cys