Canonical Allele Identifier: CA408987309

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50936177C>T , CM000682.2:g.50936177C>T	GRCh38
NC_000020.10:g.49552714C>T , CM000682.1:g.49552714C>T	GRCh37
NC_000020.9:g.48986121C>T	NCBI36
NG_008923.1:g.27347G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.649G>A (DPM1) MANE Select	NP_003850.1:p.Ala217Thr
ENST00000371588.10:c.649G>A (DPM1) MANE Select	ENSP00000360644.5:p.Ala217Thr
NM_001317034.1:c.754G>A (DPM1)	NP_001303963.1:p.Ala252Thr
NM_001317035.1:c.730G>A (DPM1)	NP_001303964.1:p.Ala244Thr
NM_001317036.1:c.580G>A (DPM1)	NP_001303965.1:p.Ala194Thr
NM_003859.1:c.649G>A (DPM1)	NP_003850.1:p.Ala217Thr
NM_003859.2:c.649G>A (DPM1)	NP_003850.1:p.Ala217Thr
NR_110007.1:n.250+2350C>T (ADNP-AS1)
NR_110008.1:n.149+4728C>T (ADNP-AS1)
NR_110009.1:n.146+4728C>T (ADNP-AS1)
NR_133648.1:n.712G>A (DPM1)
NR_133648.2:n.680G>A (DPM1)
ENST00000371582.8:c.730G>A (DPM1)	ENSP00000360638.4:p.Ala244Thr
ENST00000371584.8:c.752G>A (DPM1)
ENST00000371584.9:c.754G>A (DPM1)	ENSP00000360640.5:p.Ala252Thr
ENST00000371588.9:c.649G>A (DPM1)	ENSP00000360644.5:p.Ala217Thr
ENST00000413082.1:c.634G>A (DPM1)	ENSP00000394921.1:p.Ala212Thr
ENST00000466152.5:n.698G>A (DPM1)
ENST00000494752.1:n.419G>A (DPM1)
ENST00000681979.1:n.627G>A (DPM1)
ENST00000682366.1:n.994G>A (DPM1)
ENST00000682713.1:n.1129G>A (DPM1)
ENST00000683048.1:c.*164G>A (DPM1)	ENSP00000506986.1:n.*164G>A
ENST00000683466.1:c.265G>A (DPM1)	ENSP00000507404.1:p.Ala89Thr
ENST00000684193.1:n.1420G>A (DPM1)
ENST00000684708.1:n.684G>A (DPM1)
XR_002958550.1:n.712G>A (DPM1)
XR_002958551.1:n.593G>A (DPM1)