Canonical Allele Identifier: CA2697547421
Gene: DPM1 HGNC NCBI
ADNP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2741227
ClinVar RCV Id: RCV003506769

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50942139T>A , CM000682.2:g.50942139T>A GRCh38
NC_000020.10:g.49558676T>A , CM000682.1:g.49558676T>A GRCh37
NC_000020.9:g.48992083T>A NCBI36
NG_008923.1:g.21385A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371584.9:c.399-13A>T (DPM1) ENSP00000360640.5:n.399-13A>T
ENST00000681979.1:n.377-13A>T (DPM1)
ENST00000682366.1:n.731A>T (DPM1)
ENST00000682713.1:n.948-13A>T (DPM1)
ENST00000682754.1:n.481-13A>T (DPM1)
ENST00000683010.1:n.2106-13A>T (DPM1)
ENST00000683048.1:c.373-13A>T (DPM1) ENSP00000506986.1:n.373-13A>T
ENST00000683466.1:c.84-13A>T (DPM1) ENSP00000507404.1:n.84-13A>T
ENST00000684193.1:n.1135A>T (DPM1)
ENST00000684708.1:n.412-13A>T (DPM1)
ENST00000371588.10:c.399-13A>T (DPM1) MANE Select ENSP00000360644.5:n.399-13A>T
ENST00000371582.8:c.399-13A>T (DPM1) ENSP00000360638.4:n.399-13A>T
ENST00000371584.8:c.397-13A>T (DPM1)
ENST00000371588.9:c.399-13A>T (DPM1) ENSP00000360644.5:n.399-13A>T
ENST00000413082.1:c.399-930A>T (DPM1) ENSP00000394921.1:n.399-930A>T
ENST00000466152.5:n.426-13A>T (DPM1)
ENST00000494752.1:n.42-13A>T (DPM1)
NM_001317034.1:c.399-13A>T (DPM1) NP_001303963.1:n.399-13A>T
NM_001317035.1:c.399-13A>T (DPM1) NP_001303964.1:n.399-13A>T
NM_001317036.1:c.399-13A>T (DPM1) NP_001303965.1:n.399-13A>T
NM_003859.1:c.399-13A>T (DPM1) NP_003850.1:n.399-13A>T
NM_003859.2:c.399-13A>T (DPM1) NP_003850.1:n.399-13A>T
NR_110007.1:n.251-2218T>A (ADNP-AS1)
NR_110008.1:n.150-2218T>A (ADNP-AS1)
NR_110009.1:n.147-2218T>A (ADNP-AS1)
NR_133648.1:n.440-13A>T (DPM1)
XM_011529093.1:c.399-13A>T (DPM1) XP_011527395.1:n.399-13A>T
XM_011529094.1:c.373-13A>T (DPM1) XP_011527396.1:n.373-13A>T
XR_002958550.1:n.437-13A>T (DPM1)
XR_002958551.1:n.412-13A>T (DPM1)
NM_003859.3:c.399-13A>T (DPM1) MANE Select NP_003850.1:n.399-13A>T
NR_133648.2:n.408-13A>T (DPM1)