Canonical Allele Identifier: CA9909039

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50936256G>A , CM000682.2:g.50936256G>A	GRCh38
NC_000020.10:g.49552793G>A , CM000682.1:g.49552793G>A	GRCh37
NC_000020.9:g.48986200G>A	NCBI36
NG_008923.1:g.27268C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.570C>T (DPM1) MANE Select	NP_003850.1:p.Tyr190=
ENST00000371588.10:c.570C>T (DPM1) MANE Select	ENSP00000360644.5:p.Tyr190=
NM_001317034.1:c.675C>T (DPM1)	NP_001303963.1:p.Tyr225=
NM_001317035.1:c.651C>T (DPM1)	NP_001303964.1:p.Tyr217=
NM_001317036.1:c.501C>T (DPM1)	NP_001303965.1:p.Tyr167=
NM_003859.1:c.570C>T (DPM1)	NP_003850.1:p.Tyr190=
NM_003859.2:c.570C>T (DPM1)	NP_003850.1:p.Tyr190=
NR_110007.1:n.250+2429G>A (ADNP-AS1)
NR_110008.1:n.149+4807G>A (ADNP-AS1)
NR_110009.1:n.146+4807G>A (ADNP-AS1)
NR_133648.1:n.633C>T (DPM1)
NR_133648.2:n.601C>T (DPM1)
ENST00000371582.8:c.651C>T (DPM1)	ENSP00000360638.4:p.Tyr217=
ENST00000371584.8:c.673C>T (DPM1)
ENST00000371584.9:c.675C>T (DPM1)	ENSP00000360640.5:p.Tyr225=
ENST00000371588.9:c.570C>T (DPM1)	ENSP00000360644.5:p.Tyr190=
ENST00000413082.1:c.555C>T (DPM1)	ENSP00000394921.1:p.Tyr185=
ENST00000466152.5:n.619C>T (DPM1)
ENST00000494752.1:n.340C>T (DPM1)
ENST00000681979.1:n.548C>T (DPM1)
ENST00000682366.1:n.915C>T (DPM1)
ENST00000682713.1:n.1050C>T (DPM1)
ENST00000683048.1:c.*85C>T (DPM1)	ENSP00000506986.1:n.*85C>T
ENST00000683466.1:c.186C>T (DPM1)	ENSP00000507404.1:p.Tyr62=
ENST00000684193.1:n.1341C>T (DPM1)
ENST00000684708.1:n.605C>T (DPM1)
XR_002958550.1:n.633C>T (DPM1)
XR_002958551.1:n.514C>T (DPM1)