Canonical Allele Identifier: CA408988579

Gene: DPM1 ADNP-AS1

Linked Data

• MyVariant Identifiers: chr20:g.49557450G>T (hg19) ; chr20:g.50940913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940913G>T , CM000682.2:g.50940913G>T	GRCh38
NC_000020.10:g.49557450G>T , CM000682.1:g.49557450G>T	GRCh37
NC_000020.9:g.48990857G>T	NCBI36
NG_008923.1:g.22611C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.620C>A (DPM1)	ENSP00000360640.5:p.Thr207Asn
ENST00000681979.1:n.493C>A (DPM1)
ENST00000682366.1:n.860C>A (DPM1)
ENST00000682713.1:n.1043+1118C>A (DPM1)
ENST00000682754.1:n.619C>A (DPM1)
ENST00000683010.1:n.2244C>A (DPM1)
ENST00000683048.1:c.*78+1118C>A (DPM1)	ENSP00000506986.1:n.*78+1118C>A
ENST00000683466.1:c.179+1118C>A (DPM1)	ENSP00000507404.1:n.179+1118C>A
ENST00000684193.1:n.1286C>A (DPM1)
ENST00000684708.1:n.550C>A (DPM1)
ENST00000371588.10:c.515C>A (DPM1) MANE Select	ENSP00000360644.5:p.Thr172Asn
ENST00000371582.8:c.596C>A (DPM1)	ENSP00000360638.4:p.Thr199Asn
ENST00000371584.8:c.618C>A (DPM1)
ENST00000371588.9:c.515C>A (DPM1)	ENSP00000360644.5:p.Thr172Asn
ENST00000413082.1:c.500C>A (DPM1)	ENSP00000394921.1:p.Thr167Asn
ENST00000466152.5:n.564C>A (DPM1)
ENST00000494752.1:n.285C>A (DPM1)
NM_001317034.1:c.620C>A (DPM1)	NP_001303963.1:p.Thr207Asn
NM_001317035.1:c.596C>A (DPM1)	NP_001303964.1:p.Thr199Asn
NM_001317036.1:c.494+1118C>A (DPM1)	NP_001303965.1:n.494+1118C>A
NM_003859.1:c.515C>A (DPM1)	NP_003850.1:p.Thr172Asn
NM_003859.2:c.515C>A (DPM1)	NP_003850.1:p.Thr172Asn
NR_110007.1:n.251-3444G>T (ADNP-AS1)
NR_110008.1:n.150-3444G>T (ADNP-AS1)
NR_110009.1:n.147-3444G>T (ADNP-AS1)
NR_133648.1:n.578C>A (DPM1)
XM_011529093.1:c.540C>A (DPM1)	XP_011527395.1:p.Asn180Lys
XR_002958550.1:n.578C>A (DPM1)
XR_002958551.1:n.507+1118C>A (DPM1)
NM_003859.3:c.515C>A (DPM1) MANE Select	NP_003850.1:p.Thr172Asn
NR_133648.2:n.546C>A (DPM1)