Canonical Allele Identifier: CA9909102

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942085C>T , CM000682.2:g.50942085C>T	GRCh38
NC_000020.10:g.49558622C>T , CM000682.1:g.49558622C>T	GRCh37
NC_000020.9:g.48992029C>T	NCBI36
NG_008923.1:g.21439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.440G>A (DPM1) MANE Select	NP_003850.1:p.Arg147His
ENST00000371588.10:c.440G>A (DPM1) MANE Select	ENSP00000360644.5:p.Arg147His
NM_001317034.1:c.440G>A (DPM1)	NP_001303963.1:p.Arg147His
NM_001317035.1:c.440G>A (DPM1)	NP_001303964.1:p.Arg147His
NM_001317036.1:c.440G>A (DPM1)	NP_001303965.1:p.Arg147His
NM_003859.1:c.440G>A (DPM1)	NP_003850.1:p.Arg147His
NM_003859.2:c.440G>A (DPM1)	NP_003850.1:p.Arg147His
NR_110007.1:n.251-2272C>T (ADNP-AS1)
NR_110008.1:n.150-2272C>T (ADNP-AS1)
NR_110009.1:n.147-2272C>T (ADNP-AS1)
NR_133648.1:n.481G>A (DPM1)
NR_133648.2:n.449G>A (DPM1)
ENST00000371582.8:c.440G>A (DPM1)	ENSP00000360638.4:p.Arg147His
ENST00000371584.8:c.438G>A (DPM1)
ENST00000371584.9:c.440G>A (DPM1)	ENSP00000360640.5:p.Arg147His
ENST00000371588.9:c.440G>A (DPM1)	ENSP00000360644.5:p.Arg147His
ENST00000413082.1:c.399-876G>A (DPM1)	ENSP00000394921.1:n.399-876G>A
ENST00000466152.5:n.467G>A (DPM1)
ENST00000494752.1:n.83G>A (DPM1)
ENST00000681979.1:n.418G>A (DPM1)
ENST00000682366.1:n.785G>A (DPM1)
ENST00000682713.1:n.989G>A (DPM1)
ENST00000682754.1:n.522G>A (DPM1)
ENST00000683010.1:n.2147G>A (DPM1)
ENST00000683048.1:c.*24G>A (DPM1)	ENSP00000506986.1:n.*24G>A
ENST00000683466.1:c.125G>A (DPM1)	ENSP00000507404.1:p.Arg42His
ENST00000684193.1:n.1189G>A (DPM1)
ENST00000684708.1:n.453G>A (DPM1)
XM_011529093.1:c.440G>A (DPM1)	XP_011527395.1:p.Arg147His
XM_011529094.1:c.*24G>A (DPM1)	XP_011527396.1:n.*24G>A
XR_002958550.1:n.478G>A (DPM1)
XR_002958551.1:n.453G>A (DPM1)