Canonical Allele Identifier: CA1018312751

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50945835C>T , CM000682.2:g.50945835C>T	GRCh38
NC_000020.10:g.49562372C>T , CM000682.1:g.49562372C>T	GRCh37
NC_000020.9:g.48995779C>T	NCBI36
NG_008923.1:g.17689G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.372+12G>A MANE Select	NP_003850.1:n.372+12G>A
ENST00000371588.10:c.372+12G>A MANE Select	ENSP00000360644.5:n.372+12G>A
NM_001317034.1:c.372+12G>A	NP_001303963.1:n.372+12G>A
NM_001317035.1:c.372+12G>A	NP_001303964.1:n.372+12G>A
NM_001317036.1:c.372+12G>A	NP_001303965.1:n.372+12G>A
NM_003859.1:c.372+12G>A	NP_003850.1:n.372+12G>A
NM_003859.2:c.372+12G>A	NP_003850.1:n.372+12G>A
NR_133648.1:n.413+12G>A
NR_133648.2:n.381+12G>A
ENST00000371582.8:c.372+12G>A	ENSP00000360638.4:n.372+12G>A
ENST00000371584.8:c.370+12G>A
ENST00000371584.9:c.372+12G>A	ENSP00000360640.5:n.372+12G>A
ENST00000371588.9:c.372+12G>A	ENSP00000360644.5:n.372+12G>A
ENST00000413082.1:c.372+12G>A	ENSP00000394921.1:n.372+12G>A
ENST00000466152.5:n.399+12G>A
ENST00000494752.1:n.15+12G>A
ENST00000681979.1:n.278G>A
ENST00000682713.1:n.921+12G>A
ENST00000682754.1:n.382G>A
ENST00000683010.1:n.2079+12G>A
ENST00000683048.1:c.372+12G>A	ENSP00000506986.1:n.372+12G>A
ENST00000683466.1:c.57+12G>A	ENSP00000507404.1:n.57+12G>A
ENST00000684708.1:n.313G>A
XM_011529093.1:c.372+12G>A	XP_011527395.1:n.372+12G>A
XM_011529094.1:c.372+12G>A	XP_011527396.1:n.372+12G>A
XR_002958550.1:n.410+12G>A
XR_002958551.1:n.411+12G>A