Canonical Allele Identifier: CA408989450

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942119T>C , CM000682.2:g.50942119T>C	GRCh38
NC_000020.10:g.49558656T>C , CM000682.1:g.49558656T>C	GRCh37
NC_000020.9:g.48992063T>C	NCBI36
NG_008923.1:g.21405A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.406A>G (DPM1) MANE Select	NP_003850.1:p.Lys136Glu
ENST00000371588.10:c.406A>G (DPM1) MANE Select	ENSP00000360644.5:p.Lys136Glu
NM_001317034.1:c.406A>G (DPM1)	NP_001303963.1:p.Lys136Glu
NM_001317035.1:c.406A>G (DPM1)	NP_001303964.1:p.Lys136Glu
NM_001317036.1:c.406A>G (DPM1)	NP_001303965.1:p.Lys136Glu
NM_003859.1:c.406A>G (DPM1)	NP_003850.1:p.Lys136Glu
NM_003859.2:c.406A>G (DPM1)	NP_003850.1:p.Lys136Glu
NR_110007.1:n.251-2238T>C (ADNP-AS1)
NR_110008.1:n.150-2238T>C (ADNP-AS1)
NR_110009.1:n.147-2238T>C (ADNP-AS1)
NR_133648.1:n.447A>G (DPM1)
NR_133648.2:n.415A>G (DPM1)
ENST00000371582.8:c.406A>G (DPM1)	ENSP00000360638.4:p.Lys136Glu
ENST00000371584.8:c.404A>G (DPM1)
ENST00000371584.9:c.406A>G (DPM1)	ENSP00000360640.5:p.Lys136Glu
ENST00000371588.9:c.406A>G (DPM1)	ENSP00000360644.5:p.Lys136Glu
ENST00000413082.1:c.399-910A>G (DPM1)	ENSP00000394921.1:n.399-910A>G
ENST00000466152.5:n.433A>G (DPM1)
ENST00000494752.1:n.49A>G (DPM1)
ENST00000681979.1:n.384A>G (DPM1)
ENST00000682366.1:n.751A>G (DPM1)
ENST00000682713.1:n.955A>G (DPM1)
ENST00000682754.1:n.488A>G (DPM1)
ENST00000683010.1:n.2113A>G (DPM1)
ENST00000683048.1:c.380A>G (DPM1)	ENSP00000506986.1:p.Lys127Arg
ENST00000683466.1:c.91A>G (DPM1)	ENSP00000507404.1:p.Lys31Glu
ENST00000684193.1:n.1155A>G (DPM1)
ENST00000684708.1:n.419A>G (DPM1)
XM_011529093.1:c.406A>G (DPM1)	XP_011527395.1:p.Lys136Glu
XM_011529094.1:c.380A>G (DPM1)	XP_011527396.1:p.Lys127Arg
XR_002958550.1:n.444A>G (DPM1)
XR_002958551.1:n.419A>G (DPM1)