Canonical Allele Identifier: CA635782571

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940850A>G , CM000682.2:g.50940850A>G	GRCh38
NC_000020.10:g.49557387A>G , CM000682.1:g.49557387A>G	GRCh37
NC_000020.9:g.48990794A>G	NCBI36
NG_008923.1:g.22674T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.563+15T>C (DPM1) MANE Select	NP_003850.1:n.563+15T>C
ENST00000371588.10:c.563+15T>C (DPM1) MANE Select	ENSP00000360644.5:n.563+15T>C
NM_001317034.1:c.668+15T>C (DPM1)	NP_001303963.1:n.668+15T>C
NM_001317035.1:c.644+15T>C (DPM1)	NP_001303964.1:n.644+15T>C
NM_001317036.1:c.494+1181T>C (DPM1)	NP_001303965.1:n.494+1181T>C
NM_003859.1:c.563+15T>C (DPM1)	NP_003850.1:n.563+15T>C
NM_003859.2:c.563+15T>C (DPM1)	NP_003850.1:n.563+15T>C
NR_110007.1:n.251-3507A>G (ADNP-AS1)
NR_110008.1:n.150-3507A>G (ADNP-AS1)
NR_110009.1:n.147-3507A>G (ADNP-AS1)
NR_133648.1:n.626+15T>C (DPM1)
NR_133648.2:n.594+15T>C (DPM1)
ENST00000371582.8:c.644+15T>C (DPM1)	ENSP00000360638.4:n.644+15T>C
ENST00000371584.8:c.666+15T>C (DPM1)
ENST00000371584.9:c.668+15T>C (DPM1)	ENSP00000360640.5:n.668+15T>C
ENST00000371588.9:c.563+15T>C (DPM1)	ENSP00000360644.5:n.563+15T>C
ENST00000413082.1:c.548+15T>C (DPM1)	ENSP00000394921.1:n.548+15T>C
ENST00000466152.5:n.612+15T>C (DPM1)
ENST00000494752.1:n.333+15T>C (DPM1)
ENST00000681979.1:n.541+15T>C (DPM1)
ENST00000682366.1:n.908+15T>C (DPM1)
ENST00000682713.1:n.1043+1181T>C (DPM1)
ENST00000682754.1:n.682T>C (DPM1)
ENST00000683010.1:n.2307T>C (DPM1)
ENST00000683048.1:c.*78+1181T>C (DPM1)	ENSP00000506986.1:n.*78+1181T>C
ENST00000683466.1:c.179+1181T>C (DPM1)	ENSP00000507404.1:n.179+1181T>C
ENST00000684193.1:n.1334+15T>C (DPM1)
ENST00000684708.1:n.598+15T>C (DPM1)
XR_002958550.1:n.626+15T>C (DPM1)
XR_002958551.1:n.507+1181T>C (DPM1)