Canonical Allele Identifier: CA9909065

Gene: DPM1 ADNP-AS1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940951C>G , CM000682.2:g.50940951C>G	GRCh38
NC_000020.10:g.49557488C>G , CM000682.1:g.49557488C>G	GRCh37
NC_000020.9:g.48990895C>G	NCBI36
NG_008923.1:g.22573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.600-18G>C (DPM1)	ENSP00000360640.5:n.600-18G>C
ENST00000681979.1:n.473-18G>C (DPM1)
ENST00000682366.1:n.840-18G>C (DPM1)
ENST00000682713.1:n.1043+1080G>C (DPM1)
ENST00000682754.1:n.581G>C (DPM1)
ENST00000683010.1:n.2206G>C (DPM1)
ENST00000683048.1:c.*78+1080G>C (DPM1)	ENSP00000506986.1:n.*78+1080G>C
ENST00000683466.1:c.179+1080G>C (DPM1)	ENSP00000507404.1:n.179+1080G>C
ENST00000684193.1:n.1248G>C (DPM1)
ENST00000684708.1:n.512G>C (DPM1)
ENST00000371588.10:c.495-18G>C (DPM1) MANE Select	ENSP00000360644.5:n.495-18G>C
ENST00000371582.8:c.576-18G>C (DPM1)	ENSP00000360638.4:n.576-18G>C
ENST00000371584.8:c.598-18G>C (DPM1)
ENST00000371588.9:c.495-18G>C (DPM1)	ENSP00000360644.5:n.495-18G>C
ENST00000413082.1:c.480-18G>C (DPM1)	ENSP00000394921.1:n.480-18G>C
ENST00000466152.5:n.526G>C (DPM1)
ENST00000494752.1:n.247G>C (DPM1)
NM_001317034.1:c.600-18G>C (DPM1)	NP_001303963.1:n.600-18G>C
NM_001317035.1:c.576-18G>C (DPM1)	NP_001303964.1:n.576-18G>C
NM_001317036.1:c.494+1080G>C (DPM1)	NP_001303965.1:n.494+1080G>C
NM_003859.1:c.495-18G>C (DPM1)	NP_003850.1:n.495-18G>C
NM_003859.2:c.495-18G>C (DPM1)	NP_003850.1:n.495-18G>C
NR_110007.1:n.251-3406C>G (ADNP-AS1)
NR_110008.1:n.150-3406C>G (ADNP-AS1)
NR_110009.1:n.147-3406C>G (ADNP-AS1)
NR_133648.1:n.540G>C (DPM1)
XM_011529093.1:c.502G>C (DPM1)	XP_011527395.1:p.Asp168His
XR_002958550.1:n.540G>C (DPM1)
XR_002958551.1:n.507+1080G>C (DPM1)
NM_003859.3:c.495-18G>C (DPM1) MANE Select	NP_003850.1:n.495-18G>C
NR_133648.2:n.508G>C (DPM1)