Canonical Allele Identifier: CA408988696

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50941130T>G , CM000682.2:g.50941130T>G	GRCh38
NC_000020.10:g.49557667T>G , CM000682.1:g.49557667T>G	GRCh37
NC_000020.9:g.48991074T>G	NCBI36
NG_008923.1:g.22394A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.495-197A>C (DPM1) MANE Select	NP_003850.1:n.495-197A>C
ENST00000371588.10:c.495-197A>C (DPM1) MANE Select	ENSP00000360644.5:n.495-197A>C
NM_001317034.1:c.574A>C (DPM1)	NP_001303963.1:p.Arg192=
NM_001317035.1:c.574A>C (DPM1)	NP_001303964.1:p.Ser192Arg
NM_001317036.1:c.494+901A>C (DPM1)	NP_001303965.1:n.494+901A>C
NM_003859.1:c.495-197A>C (DPM1)	NP_003850.1:n.495-197A>C
NM_003859.2:c.495-197A>C (DPM1)	NP_003850.1:n.495-197A>C
NR_110007.1:n.251-3227T>G (ADNP-AS1)
NR_110008.1:n.150-3227T>G (ADNP-AS1)
NR_110009.1:n.147-3227T>G (ADNP-AS1)
NR_133648.1:n.536-175A>C (DPM1)
NR_133648.2:n.504-175A>C (DPM1)
ENST00000371582.8:c.574A>C (DPM1)	ENSP00000360638.4:p.Ser192Arg
ENST00000371584.8:c.572A>C (DPM1)
ENST00000371584.9:c.574A>C (DPM1)	ENSP00000360640.5:p.Arg192=
ENST00000371588.9:c.495-197A>C (DPM1)	ENSP00000360644.5:n.495-197A>C
ENST00000413082.1:c.478A>C (DPM1)	ENSP00000394921.1:p.Ser160Arg
ENST00000466152.5:n.522-175A>C (DPM1)
ENST00000494752.1:n.217A>C (DPM1)
ENST00000681979.1:n.473-197A>C (DPM1)
ENST00000682366.1:n.840-197A>C (DPM1)
ENST00000682713.1:n.1043+901A>C (DPM1)
ENST00000682754.1:n.577-175A>C (DPM1)
ENST00000683010.1:n.2202-175A>C (DPM1)
ENST00000683048.1:c.*78+901A>C (DPM1)	ENSP00000506986.1:n.*78+901A>C
ENST00000683466.1:c.179+901A>C (DPM1)	ENSP00000507404.1:n.179+901A>C
ENST00000684193.1:n.1244-175A>C (DPM1)
ENST00000684708.1:n.508-175A>C (DPM1)
XM_011529093.1:c.495-172A>C (DPM1)	XP_011527395.1:n.495-172A>C
XR_002958550.1:n.533-172A>C (DPM1)
XR_002958551.1:n.507+901A>C (DPM1)