Canonical Allele Identifier: CA9909278

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50958506G>A , CM000682.2:g.50958506G>A	GRCh38
NC_000020.10:g.49575043G>A , CM000682.1:g.49575043G>A	GRCh37
NC_000020.9:g.49008450G>A	NCBI36
NG_008923.1:g.5018C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.18C>T MANE Select	NP_003850.1:p.Val6=
ENST00000371588.10:c.18C>T MANE Select	ENSP00000360644.5:p.Val6=
NM_001317034.1:c.18C>T	NP_001303963.1:p.Val6=
NM_001317035.1:c.18C>T	NP_001303964.1:p.Val6=
NM_001317036.1:c.18C>T	NP_001303965.1:p.Val6=
NM_003859.1:c.18C>T	NP_003850.1:p.Val6=
NM_003859.2:c.18C>T	NP_003850.1:p.Val6=
NR_133648.1:n.59C>T
NR_133648.2:n.27C>T
ENST00000371582.8:c.18C>T	ENSP00000360638.4:p.Val6=
ENST00000371584.8:c.16C>T
ENST00000371584.9:c.18C>T	ENSP00000360640.5:p.Val6=
ENST00000371588.9:c.18C>T	ENSP00000360644.5:p.Val6=
ENST00000413082.1:c.18C>T	ENSP00000394921.1:p.Val6=
ENST00000466152.5:n.45C>T
ENST00000682754.1:n.16C>T
ENST00000683048.1:c.18C>T	ENSP00000506986.1:p.Val6=
ENST00000683466.1:c.-155+235C>T	ENSP00000507404.1:n.-155+235C>T
ENST00000684628.1:n.27C>T
XM_011529093.1:c.18C>T	XP_011527395.1:p.Val6=
XM_011529094.1:c.18C>T	XP_011527396.1:p.Val6=
XR_002958550.1:n.56C>T
XR_002958551.1:n.57C>T