Canonical Allele Identifier: CA408988581

Gene: DPM1 ADNP-AS1

Linked Data

• MyVariant Identifiers: chr20:g.49557451T>A (hg19) ; chr20:g.50940914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940914T>A , CM000682.2:g.50940914T>A	GRCh38
NC_000020.10:g.49557451T>A , CM000682.1:g.49557451T>A	GRCh37
NC_000020.9:g.48990858T>A	NCBI36
NG_008923.1:g.22610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.619A>T (DPM1)	ENSP00000360640.5:p.Thr207Ser
ENST00000681979.1:n.492A>T (DPM1)
ENST00000682366.1:n.859A>T (DPM1)
ENST00000682713.1:n.1043+1117A>T (DPM1)
ENST00000682754.1:n.618A>T (DPM1)
ENST00000683010.1:n.2243A>T (DPM1)
ENST00000683048.1:c.*78+1117A>T (DPM1)	ENSP00000506986.1:n.*78+1117A>T
ENST00000683466.1:c.179+1117A>T (DPM1)	ENSP00000507404.1:n.179+1117A>T
ENST00000684193.1:n.1285A>T (DPM1)
ENST00000684708.1:n.549A>T (DPM1)
ENST00000371588.10:c.514A>T (DPM1) MANE Select	ENSP00000360644.5:p.Thr172Ser
ENST00000371582.8:c.595A>T (DPM1)	ENSP00000360638.4:p.Thr199Ser
ENST00000371584.8:c.617A>T (DPM1)
ENST00000371588.9:c.514A>T (DPM1)	ENSP00000360644.5:p.Thr172Ser
ENST00000413082.1:c.499A>T (DPM1)	ENSP00000394921.1:p.Thr167Ser
ENST00000466152.5:n.563A>T (DPM1)
ENST00000494752.1:n.284A>T (DPM1)
NM_001317034.1:c.619A>T (DPM1)	NP_001303963.1:p.Thr207Ser
NM_001317035.1:c.595A>T (DPM1)	NP_001303964.1:p.Thr199Ser
NM_001317036.1:c.494+1117A>T (DPM1)	NP_001303965.1:n.494+1117A>T
NM_003859.1:c.514A>T (DPM1)	NP_003850.1:p.Thr172Ser
NM_003859.2:c.514A>T (DPM1)	NP_003850.1:p.Thr172Ser
NR_110007.1:n.251-3443T>A (ADNP-AS1)
NR_110008.1:n.150-3443T>A (ADNP-AS1)
NR_110009.1:n.147-3443T>A (ADNP-AS1)
NR_133648.1:n.577A>T (DPM1)
XM_011529093.1:c.539A>T (DPM1)	XP_011527395.1:p.Asn180Ile
XR_002958550.1:n.577A>T (DPM1)
XR_002958551.1:n.507+1117A>T (DPM1)
NM_003859.3:c.514A>T (DPM1) MANE Select	NP_003850.1:p.Thr172Ser
NR_133648.2:n.545A>T (DPM1)