Canonical Allele Identifier: CA408989070

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942029A>G , CM000682.2:g.50942029A>G	GRCh38
NC_000020.10:g.49558566A>G , CM000682.1:g.49558566A>G	GRCh37
NC_000020.9:g.48991973A>G	NCBI36
NG_008923.1:g.21495T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.494+2T>C (DPM1) MANE Select	NP_003850.1:n.494+2T>C
ENST00000371588.10:c.494+2T>C (DPM1) MANE Select	ENSP00000360644.5:n.494+2T>C
NM_001317034.1:c.494+2T>C (DPM1)	NP_001303963.1:n.494+2T>C
NM_001317035.1:c.494+2T>C (DPM1)	NP_001303964.1:n.494+2T>C
NM_001317036.1:c.494+2T>C (DPM1)	NP_001303965.1:n.494+2T>C
NM_003859.1:c.494+2T>C (DPM1)	NP_003850.1:n.494+2T>C
NM_003859.2:c.494+2T>C (DPM1)	NP_003850.1:n.494+2T>C
NR_110007.1:n.251-2328A>G (ADNP-AS1)
NR_110008.1:n.150-2328A>G (ADNP-AS1)
NR_110009.1:n.147-2328A>G (ADNP-AS1)
NR_133648.1:n.535+2T>C (DPM1)
NR_133648.2:n.503+2T>C (DPM1)
ENST00000371582.8:c.494+2T>C (DPM1)	ENSP00000360638.4:n.494+2T>C
ENST00000371584.8:c.492+2T>C (DPM1)
ENST00000371584.9:c.494+2T>C (DPM1)	ENSP00000360640.5:n.494+2T>C
ENST00000371588.9:c.494+2T>C (DPM1)	ENSP00000360644.5:n.494+2T>C
ENST00000413082.1:c.399-820T>C (DPM1)	ENSP00000394921.1:n.399-820T>C
ENST00000466152.5:n.521+2T>C (DPM1)
ENST00000494752.1:n.137+2T>C (DPM1)
ENST00000681979.1:n.472+2T>C (DPM1)
ENST00000682366.1:n.839+2T>C (DPM1)
ENST00000682713.1:n.1043+2T>C (DPM1)
ENST00000682754.1:n.576+2T>C (DPM1)
ENST00000683010.1:n.2201+2T>C (DPM1)
ENST00000683048.1:c.*78+2T>C (DPM1)	ENSP00000506986.1:n.*78+2T>C
ENST00000683466.1:c.179+2T>C (DPM1)	ENSP00000507404.1:n.179+2T>C
ENST00000684193.1:n.1243+2T>C (DPM1)
ENST00000684708.1:n.507+2T>C (DPM1)
XM_011529093.1:c.494+2T>C (DPM1)	XP_011527395.1:n.494+2T>C
XR_002958550.1:n.532+2T>C (DPM1)
XR_002958551.1:n.507+2T>C (DPM1)