Canonical Allele Identifier: CA408989316

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942086G>A , CM000682.2:g.50942086G>A	GRCh38
NC_000020.10:g.49558623G>A , CM000682.1:g.49558623G>A	GRCh37
NC_000020.9:g.48992030G>A	NCBI36
NG_008923.1:g.21438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.439C>T (DPM1) MANE Select	NP_003850.1:p.Arg147Cys
ENST00000371588.10:c.439C>T (DPM1) MANE Select	ENSP00000360644.5:p.Arg147Cys
NM_001317034.1:c.439C>T (DPM1)	NP_001303963.1:p.Arg147Cys
NM_001317035.1:c.439C>T (DPM1)	NP_001303964.1:p.Arg147Cys
NM_001317036.1:c.439C>T (DPM1)	NP_001303965.1:p.Arg147Cys
NM_003859.1:c.439C>T (DPM1)	NP_003850.1:p.Arg147Cys
NM_003859.2:c.439C>T (DPM1)	NP_003850.1:p.Arg147Cys
NR_110007.1:n.251-2271G>A (ADNP-AS1)
NR_110008.1:n.150-2271G>A (ADNP-AS1)
NR_110009.1:n.147-2271G>A (ADNP-AS1)
NR_133648.1:n.480C>T (DPM1)
NR_133648.2:n.448C>T (DPM1)
ENST00000371582.8:c.439C>T (DPM1)	ENSP00000360638.4:p.Arg147Cys
ENST00000371584.8:c.437C>T (DPM1)
ENST00000371584.9:c.439C>T (DPM1)	ENSP00000360640.5:p.Arg147Cys
ENST00000371588.9:c.439C>T (DPM1)	ENSP00000360644.5:p.Arg147Cys
ENST00000413082.1:c.399-877C>T (DPM1)	ENSP00000394921.1:n.399-877C>T
ENST00000466152.5:n.466C>T (DPM1)
ENST00000494752.1:n.82C>T (DPM1)
ENST00000681979.1:n.417C>T (DPM1)
ENST00000682366.1:n.784C>T (DPM1)
ENST00000682713.1:n.988C>T (DPM1)
ENST00000682754.1:n.521C>T (DPM1)
ENST00000683010.1:n.2146C>T (DPM1)
ENST00000683048.1:c.*23C>T (DPM1)	ENSP00000506986.1:n.*23C>T
ENST00000683466.1:c.124C>T (DPM1)	ENSP00000507404.1:p.Arg42Cys
ENST00000684193.1:n.1188C>T (DPM1)
ENST00000684708.1:n.452C>T (DPM1)
XM_011529093.1:c.439C>T (DPM1)	XP_011527395.1:p.Arg147Cys
XM_011529094.1:c.*23C>T (DPM1)	XP_011527396.1:n.*23C>T
XR_002958550.1:n.477C>T (DPM1)
XR_002958551.1:n.452C>T (DPM1)