Canonical Allele Identifier: CA9909191

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50955228A>G , CM000682.2:g.50955228A>G	GRCh38
NC_000020.10:g.49571765A>G , CM000682.1:g.49571765A>G	GRCh37
NC_000020.9:g.49005172A>G	NCBI36
NG_008923.1:g.8296T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.219T>C MANE Select	NP_003850.1:p.Asp73=
ENST00000371588.10:c.219T>C MANE Select	ENSP00000360644.5:p.Asp73=
NM_001317034.1:c.219T>C	NP_001303963.1:p.Asp73=
NM_001317035.1:c.219T>C	NP_001303964.1:p.Asp73=
NM_001317036.1:c.219T>C	NP_001303965.1:p.Asp73=
NM_003859.1:c.219T>C	NP_003850.1:p.Asp73=
NM_003859.2:c.219T>C	NP_003850.1:p.Asp73=
NR_133648.1:n.260T>C
NR_133648.2:n.228T>C
ENST00000371582.8:c.219T>C	ENSP00000360638.4:p.Asp73=
ENST00000371584.8:c.217T>C
ENST00000371584.9:c.219T>C	ENSP00000360640.5:p.Asp73=
ENST00000371588.9:c.219T>C	ENSP00000360644.5:p.Asp73=
ENST00000413082.1:c.219T>C	ENSP00000394921.1:p.Asp73=
ENST00000466152.5:n.246T>C
ENST00000681979.1:n.113T>C
ENST00000682754.1:n.217T>C
ENST00000683010.1:n.1926T>C
ENST00000683048.1:c.219T>C	ENSP00000506986.1:p.Asp73=
ENST00000683466.1:c.-97T>C	ENSP00000507404.1:n.-97T>C
ENST00000684628.1:n.228T>C
ENST00000684708.1:n.148T>C
XM_011529093.1:c.219T>C	XP_011527395.1:p.Asp73=
XM_011529094.1:c.219T>C	XP_011527396.1:p.Asp73=
XR_002958550.1:n.257T>C
XR_002958551.1:n.258T>C