Canonical Allele Identifier: CA408989635

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50945848T>C , CM000682.2:g.50945848T>C	GRCh38
NC_000020.10:g.49562385T>C , CM000682.1:g.49562385T>C	GRCh37
NC_000020.9:g.48995792T>C	NCBI36
NG_008923.1:g.17676A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.371A>G MANE Select	NP_003850.1:p.His124Arg
ENST00000371588.10:c.371A>G MANE Select	ENSP00000360644.5:p.His124Arg
NM_001317034.1:c.371A>G	NP_001303963.1:p.His124Arg
NM_001317035.1:c.371A>G	NP_001303964.1:p.His124Arg
NM_001317036.1:c.371A>G	NP_001303965.1:p.His124Arg
NM_003859.1:c.371A>G	NP_003850.1:p.His124Arg
NM_003859.2:c.371A>G	NP_003850.1:p.His124Arg
NR_133648.1:n.412A>G
NR_133648.2:n.380A>G
ENST00000371582.8:c.371A>G	ENSP00000360638.4:p.His124Arg
ENST00000371584.8:c.369A>G
ENST00000371584.9:c.371A>G	ENSP00000360640.5:p.His124Arg
ENST00000371588.9:c.371A>G	ENSP00000360644.5:p.His124Arg
ENST00000413082.1:c.371A>G	ENSP00000394921.1:p.His124Arg
ENST00000466152.5:n.398A>G
ENST00000494752.1:n.14A>G
ENST00000681979.1:n.265A>G
ENST00000682713.1:n.920A>G
ENST00000682754.1:n.369A>G
ENST00000683010.1:n.2078A>G
ENST00000683048.1:c.371A>G	ENSP00000506986.1:p.His124Arg
ENST00000683466.1:c.56A>G	ENSP00000507404.1:p.His19Arg
ENST00000684708.1:n.300A>G
XM_011529093.1:c.371A>G	XP_011527395.1:p.His124Arg
XM_011529094.1:c.371A>G	XP_011527396.1:p.His124Arg
XR_002958550.1:n.409A>G
XR_002958551.1:n.410A>G