Canonical Allele Identifier: CA408987551

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50936236T>G , CM000682.2:g.50936236T>G	GRCh38
NC_000020.10:g.49552773T>G , CM000682.1:g.49552773T>G	GRCh37
NC_000020.9:g.48986180T>G	NCBI36
NG_008923.1:g.27288A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.590A>C (DPM1) MANE Select	NP_003850.1:p.Lys197Thr
ENST00000371588.10:c.590A>C (DPM1) MANE Select	ENSP00000360644.5:p.Lys197Thr
NM_001317034.1:c.695A>C (DPM1)	NP_001303963.1:p.Lys232Thr
NM_001317035.1:c.671A>C (DPM1)	NP_001303964.1:p.Lys224Thr
NM_001317036.1:c.521A>C (DPM1)	NP_001303965.1:p.Lys174Thr
NM_003859.1:c.590A>C (DPM1)	NP_003850.1:p.Lys197Thr
NM_003859.2:c.590A>C (DPM1)	NP_003850.1:p.Lys197Thr
NR_110007.1:n.250+2409T>G (ADNP-AS1)
NR_110008.1:n.149+4787T>G (ADNP-AS1)
NR_110009.1:n.146+4787T>G (ADNP-AS1)
NR_133648.1:n.653A>C (DPM1)
NR_133648.2:n.621A>C (DPM1)
ENST00000371582.8:c.671A>C (DPM1)	ENSP00000360638.4:p.Lys224Thr
ENST00000371584.8:c.693A>C (DPM1)
ENST00000371584.9:c.695A>C (DPM1)	ENSP00000360640.5:p.Lys232Thr
ENST00000371588.9:c.590A>C (DPM1)	ENSP00000360644.5:p.Lys197Thr
ENST00000413082.1:c.575A>C (DPM1)	ENSP00000394921.1:p.Lys192Thr
ENST00000466152.5:n.639A>C (DPM1)
ENST00000494752.1:n.360A>C (DPM1)
ENST00000681979.1:n.568A>C (DPM1)
ENST00000682366.1:n.935A>C (DPM1)
ENST00000682713.1:n.1070A>C (DPM1)
ENST00000683048.1:c.*105A>C (DPM1)	ENSP00000506986.1:n.*105A>C
ENST00000683466.1:c.206A>C (DPM1)	ENSP00000507404.1:p.Lys69Thr
ENST00000684193.1:n.1361A>C (DPM1)
ENST00000684708.1:n.625A>C (DPM1)
XR_002958550.1:n.653A>C (DPM1)
XR_002958551.1:n.534A>C (DPM1)