Canonical Allele Identifier: CA408989089

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942032T>G , CM000682.2:g.50942032T>G	GRCh38
NC_000020.10:g.49558569T>G , CM000682.1:g.49558569T>G	GRCh37
NC_000020.9:g.48991976T>G	NCBI36
NG_008923.1:g.21492A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.493A>C (DPM1) MANE Select	NP_003850.1:p.Ser165Arg
ENST00000371588.10:c.493A>C (DPM1) MANE Select	ENSP00000360644.5:p.Ser165Arg
NM_001317034.1:c.493A>C (DPM1)	NP_001303963.1:p.Ser165Arg
NM_001317035.1:c.493A>C (DPM1)	NP_001303964.1:p.Ser165Arg
NM_001317036.1:c.493A>C (DPM1)	NP_001303965.1:p.Arg165=
NM_003859.1:c.493A>C (DPM1)	NP_003850.1:p.Ser165Arg
NM_003859.2:c.493A>C (DPM1)	NP_003850.1:p.Ser165Arg
NR_110007.1:n.251-2325T>G (ADNP-AS1)
NR_110008.1:n.150-2325T>G (ADNP-AS1)
NR_110009.1:n.147-2325T>G (ADNP-AS1)
NR_133648.1:n.534A>C (DPM1)
NR_133648.2:n.502A>C (DPM1)
ENST00000371582.8:c.493A>C (DPM1)	ENSP00000360638.4:p.Ser165Arg
ENST00000371584.8:c.491A>C (DPM1)
ENST00000371584.9:c.493A>C (DPM1)	ENSP00000360640.5:p.Ser165Arg
ENST00000371588.9:c.493A>C (DPM1)	ENSP00000360644.5:p.Ser165Arg
ENST00000413082.1:c.399-823A>C (DPM1)	ENSP00000394921.1:n.399-823A>C
ENST00000466152.5:n.520A>C (DPM1)
ENST00000494752.1:n.136A>C (DPM1)
ENST00000681979.1:n.471A>C (DPM1)
ENST00000682366.1:n.838A>C (DPM1)
ENST00000682713.1:n.1042A>C (DPM1)
ENST00000682754.1:n.575A>C (DPM1)
ENST00000683010.1:n.2200A>C (DPM1)
ENST00000683048.1:c.*77A>C (DPM1)	ENSP00000506986.1:n.*77A>C
ENST00000683466.1:c.178A>C (DPM1)	ENSP00000507404.1:p.Arg60=
ENST00000684193.1:n.1242A>C (DPM1)
ENST00000684708.1:n.506A>C (DPM1)
XM_011529093.1:c.493A>C (DPM1)	XP_011527395.1:p.Arg165=
XR_002958550.1:n.531A>C (DPM1)
XR_002958551.1:n.506A>C (DPM1)