Canonical Allele Identifier: CA150576

Gene: DPM1

Linked Data

• ClinVar Variation Id: 100635
• ClinVar RCV Id: RCV000087035
• dbSNP Id: rs587777115
• MyVariant Identifiers: chr20:g.49562304A>T (hg19) ; chr20:g.50945767A>T (hg38)
• PubMed: PMID:16641202

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50945767A>T , CM000682.2:g.50945767A>T	GRCh38
NC_000020.10:g.49562304A>T , CM000682.1:g.49562304A>T	GRCh37
NC_000020.9:g.48995711A>T	NCBI36
NG_008923.1:g.17757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.373-5T>A	ENSP00000360640.5:n.373-5T>A
ENST00000681979.1:n.346T>A
ENST00000682713.1:n.922-5T>A
ENST00000682754.1:n.450T>A
ENST00000683010.1:n.2080-5T>A
ENST00000683048.1:c.372+80T>A	ENSP00000506986.1:n.372+80T>A
ENST00000683466.1:c.58-5T>A	ENSP00000507404.1:n.58-5T>A
ENST00000684708.1:n.381T>A
ENST00000371588.10:c.373-5T>A MANE Select	ENSP00000360644.5:n.373-5T>A
ENST00000371582.8:c.373-5T>A	ENSP00000360638.4:n.373-5T>A
ENST00000371584.8:c.371-5T>A
ENST00000371588.9:c.373-5T>A	ENSP00000360644.5:n.373-5T>A
ENST00000413082.1:c.373-5T>A	ENSP00000394921.1:n.373-5T>A
ENST00000466152.5:n.400-5T>A
ENST00000494752.1:n.16-5T>A
NM_001317034.1:c.373-5T>A	NP_001303963.1:n.373-5T>A
NM_001317035.1:c.373-5T>A	NP_001303964.1:n.373-5T>A
NM_001317036.1:c.373-5T>A	NP_001303965.1:n.373-5T>A
NM_003859.1:c.373-5T>A	NP_003850.1:n.373-5T>A
NM_003859.2:c.373-5T>A	NP_003850.1:n.373-5T>A
NR_133648.1:n.414-5T>A
XM_011529093.1:c.373-5T>A	XP_011527395.1:n.373-5T>A
XM_011529094.1:c.372+80T>A	XP_011527396.1:n.372+80T>A
XR_002958550.1:n.411-5T>A
XR_002958551.1:n.411+80T>A
NM_003859.3:c.373-5T>A MANE Select	NP_003850.1:n.373-5T>A
NR_133648.2:n.382-5T>A