Canonical Allele Identifier: CA9909199

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50955276G>A , CM000682.2:g.50955276G>A	GRCh38
NC_000020.10:g.49571813G>A , CM000682.1:g.49571813G>A	GRCh37
NC_000020.9:g.49005220G>A	NCBI36
NG_008923.1:g.8248C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.171C>T MANE Select	NP_003850.1:p.Asn57=
ENST00000371588.10:c.171C>T MANE Select	ENSP00000360644.5:p.Asn57=
NM_001317034.1:c.171C>T	NP_001303963.1:p.Asn57=
NM_001317035.1:c.171C>T	NP_001303964.1:p.Asn57=
NM_001317036.1:c.171C>T	NP_001303965.1:p.Asn57=
NM_003859.1:c.171C>T	NP_003850.1:p.Asn57=
NM_003859.2:c.171C>T	NP_003850.1:p.Asn57=
NR_133648.1:n.212C>T
NR_133648.2:n.180C>T
ENST00000371582.8:c.171C>T	ENSP00000360638.4:p.Asn57=
ENST00000371584.8:c.169C>T
ENST00000371584.9:c.171C>T	ENSP00000360640.5:p.Asn57=
ENST00000371588.9:c.171C>T	ENSP00000360644.5:p.Asn57=
ENST00000413082.1:c.171C>T	ENSP00000394921.1:p.Asn57=
ENST00000466152.5:n.198C>T
ENST00000681979.1:n.65C>T
ENST00000682754.1:n.169C>T
ENST00000683010.1:n.1878C>T
ENST00000683048.1:c.171C>T	ENSP00000506986.1:p.Asn57=
ENST00000683466.1:c.-145C>T	ENSP00000507404.1:n.-145C>T
ENST00000684628.1:n.180C>T
ENST00000684708.1:n.100C>T
XM_011529093.1:c.171C>T	XP_011527395.1:p.Asn57=
XM_011529094.1:c.171C>T	XP_011527396.1:p.Asn57=
XR_002958550.1:n.209C>T
XR_002958551.1:n.210C>T