Canonical Allele Identifier: CA408587078
Community Standard Title: NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)
Gene: DNMT3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32798548T>C , CM000682.2:g.32798548T>C GRCh38
NC_000020.10:g.31386354T>C , CM000682.1:g.31386354T>C GRCh37
NC_000020.9:g.30850015T>C NCBI36
NG_007290.1:g.41164T>C , LRG_56:g.41164T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006892.4:c.1579T>C MANE Select NP_008823.1:p.Cys527Arg
ENST00000328111.6:c.1579T>C MANE Select ENSP00000328547.2:p.Cys527Arg
NM_001207055.1:c.1393T>C NP_001193984.1:p.Cys465Arg
NM_001207055.2:c.1393T>C NP_001193984.1:p.Cys465Arg
NM_001207056.1:c.1291T>C NP_001193985.1:p.Cys431Arg
NM_001207056.2:c.1291T>C NP_001193985.1:p.Cys431Arg
NM_006892.3:c.1579T>C , LRG_56t1:c.1579T>C NP_008823.1:p.Cys527Arg
NM_175848.1:c.1519T>C NP_787044.1:p.Cys507Arg
NM_175848.2:c.1519T>C NP_787044.1:p.Cys507Arg
NM_175849.1:c.1519T>C NP_787045.1:p.Cys507Arg
NM_175849.2:c.1519T>C NP_787045.1:p.Cys507Arg
NM_175850.2:c.1555T>C NP_787046.1:p.Cys519Arg
NM_175850.3:c.1555T>C NP_787046.1:p.Cys519Arg
ENST00000201963.3:c.1555T>C ENSP00000201963.3:p.Cys519Arg
ENST00000348286.6:c.1519T>C ENSP00000337764.2:p.Cys507Arg
ENST00000353855.6:c.1519T>C ENSP00000313397.4:p.Cys507Arg
ENST00000443239.7:c.1393T>C ENSP00000403169.2:p.Cys465Arg
ENST00000456297.6:c.1291T>C ENSP00000412305.1:p.Cys431Arg
ENST00000696231.1:c.*530T>C ENSP00000512497.1:n.*530T>C
ENST00000696232.1:c.1579T>C ENSP00000512498.1:p.Cys527Arg
ENST00000696233.1:c.*322T>C ENSP00000512499.1:n.*322T>C
ENST00000696235.1:c.*227T>C ENSP00000512500.1:n.*227T>C
ENST00000696238.1:c.*322T>C ENSP00000512502.1:n.*322T>C
ENST00000696239.1:c.1360T>C ENSP00000512503.1:p.Cys454Arg
ENST00000696244.1:n.159T>C
XM_011528653.1:c.1555T>C XP_011526955.1:p.Cys519Arg
XM_011528653.2:c.1555T>C XP_011526955.1:p.Cys519Arg
XM_011528654.1:c.1429T>C XP_011526956.1:p.Cys477Arg
XM_011528654.2:c.1429T>C XP_011526956.1:p.Cys477Arg
XR_936510.1:n.1546T>C
XR_936510.2:n.1557T>C
XR_936511.1:n.1546T>C
XR_936511.2:n.1557T>C
XR_936512.1:n.1421T>C
XR_936512.2:n.1433T>C