Canonical Allele Identifier: CA408989429

Gene: DPM1 ADNP-AS1

Linked Data

• ClinVar Variation Id: 464504
• ClinVar RCV Id: RCV000541426
• dbSNP Id: rs753780084
• MyVariant Identifiers: chr20:g.49558653C>A (hg19) ; chr20:g.50942116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50942116C>A , CM000682.2:g.50942116C>A	GRCh38
NC_000020.10:g.49558653C>A , CM000682.1:g.49558653C>A	GRCh37
NC_000020.9:g.48992060C>A	NCBI36
NG_008923.1:g.21408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.409G>T (DPM1)	ENSP00000360640.5:p.Glu137Ter
ENST00000681979.1:n.387G>T (DPM1)
ENST00000682366.1:n.754G>T (DPM1)
ENST00000682713.1:n.958G>T (DPM1)
ENST00000682754.1:n.491G>T (DPM1)
ENST00000683010.1:n.2116G>T (DPM1)
ENST00000683048.1:c.383G>T (DPM1)	ENSP00000506986.1:p.Gly128Val
ENST00000683466.1:c.94G>T (DPM1)	ENSP00000507404.1:p.Glu32Ter
ENST00000684193.1:n.1158G>T (DPM1)
ENST00000684708.1:n.422G>T (DPM1)
ENST00000371588.10:c.409G>T (DPM1) MANE Select	ENSP00000360644.5:p.Glu137Ter
ENST00000371582.8:c.409G>T (DPM1)	ENSP00000360638.4:p.Glu137Ter
ENST00000371584.8:c.407G>T (DPM1)
ENST00000371588.9:c.409G>T (DPM1)	ENSP00000360644.5:p.Glu137Ter
ENST00000413082.1:c.399-907G>T (DPM1)	ENSP00000394921.1:n.399-907G>T
ENST00000466152.5:n.436G>T (DPM1)
ENST00000494752.1:n.52G>T (DPM1)
NM_001317034.1:c.409G>T (DPM1)	NP_001303963.1:p.Glu137Ter
NM_001317035.1:c.409G>T (DPM1)	NP_001303964.1:p.Glu137Ter
NM_001317036.1:c.409G>T (DPM1)	NP_001303965.1:p.Glu137Ter
NM_003859.1:c.409G>T (DPM1)	NP_003850.1:p.Glu137Ter
NM_003859.2:c.409G>T (DPM1)	NP_003850.1:p.Glu137Ter
NR_110007.1:n.251-2241C>A (ADNP-AS1)
NR_110008.1:n.150-2241C>A (ADNP-AS1)
NR_110009.1:n.147-2241C>A (ADNP-AS1)
NR_133648.1:n.450G>T (DPM1)
XM_011529093.1:c.409G>T (DPM1)	XP_011527395.1:p.Glu137Ter
XM_011529094.1:c.383G>T (DPM1)	XP_011527396.1:p.Gly128Val
XR_002958550.1:n.447G>T (DPM1)
XR_002958551.1:n.422G>T (DPM1)
NM_003859.3:c.409G>T (DPM1) MANE Select	NP_003850.1:p.Glu137Ter
NR_133648.2:n.418G>T (DPM1)