Canonical Allele Identifier: CA9909077

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50941106T>G , CM000682.2:g.50941106T>G	GRCh38
NC_000020.10:g.49557643T>G , CM000682.1:g.49557643T>G	GRCh37
NC_000020.9:g.48991050T>G	NCBI36
NG_008923.1:g.22418A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.495-173A>C (DPM1) MANE Select	NP_003850.1:n.495-173A>C
ENST00000371588.10:c.495-173A>C (DPM1) MANE Select	ENSP00000360644.5:n.495-173A>C
NM_001317034.1:c.598A>C (DPM1)	NP_001303963.1:p.Ser200Arg
NM_001317035.1:c.575+23A>C (DPM1)	NP_001303964.1:n.575+23A>C
NM_001317036.1:c.494+925A>C (DPM1)	NP_001303965.1:n.494+925A>C
NM_003859.1:c.495-173A>C (DPM1)	NP_003850.1:n.495-173A>C
NM_003859.2:c.495-173A>C (DPM1)	NP_003850.1:n.495-173A>C
NR_110007.1:n.251-3251T>G (ADNP-AS1)
NR_110008.1:n.150-3251T>G (ADNP-AS1)
NR_110009.1:n.147-3251T>G (ADNP-AS1)
NR_133648.1:n.536-151A>C (DPM1)
NR_133648.2:n.504-151A>C (DPM1)
ENST00000371582.8:c.575+23A>C (DPM1)	ENSP00000360638.4:n.575+23A>C
ENST00000371584.8:c.596A>C (DPM1)
ENST00000371584.9:c.598A>C (DPM1)	ENSP00000360640.5:p.Ser200Arg
ENST00000371588.9:c.495-173A>C (DPM1)	ENSP00000360644.5:n.495-173A>C
ENST00000413082.1:c.479+23A>C (DPM1)	ENSP00000394921.1:n.479+23A>C
ENST00000466152.5:n.522-151A>C (DPM1)
ENST00000494752.1:n.241A>C (DPM1)
ENST00000681979.1:n.473-173A>C (DPM1)
ENST00000682366.1:n.840-173A>C (DPM1)
ENST00000682713.1:n.1043+925A>C (DPM1)
ENST00000682754.1:n.577-151A>C (DPM1)
ENST00000683010.1:n.2202-151A>C (DPM1)
ENST00000683048.1:c.*78+925A>C (DPM1)	ENSP00000506986.1:n.*78+925A>C
ENST00000683466.1:c.179+925A>C (DPM1)	ENSP00000507404.1:n.179+925A>C
ENST00000684193.1:n.1244-151A>C (DPM1)
ENST00000684708.1:n.508-151A>C (DPM1)
XM_011529093.1:c.495-148A>C (DPM1)	XP_011527395.1:n.495-148A>C
XR_002958550.1:n.533-148A>C (DPM1)
XR_002958551.1:n.507+925A>C (DPM1)