Canonical Allele Identifier: CA315295964

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50935823G>A , CM000682.2:g.50935823G>A	GRCh38
NC_000020.10:g.49552360G>A , CM000682.1:g.49552360G>A	GRCh37
NC_000020.9:g.48985767G>A	NCBI36
NG_008923.1:g.27701C>T
NG_034200.1:g.168C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.678+325C>T (DPM1) MANE Select	NP_003850.1:n.678+325C>T
ENST00000371588.10:c.678+325C>T (DPM1) MANE Select	ENSP00000360644.5:n.678+325C>T
NM_001317034.1:c.783+325C>T (DPM1)	NP_001303963.1:n.783+325C>T
NM_001317035.1:c.759+325C>T (DPM1)	NP_001303964.1:n.759+325C>T
NM_001317036.1:c.609+325C>T (DPM1)	NP_001303965.1:n.609+325C>T
NM_003859.1:c.678+325C>T (DPM1)	NP_003850.1:n.678+325C>T
NM_003859.2:c.678+325C>T (DPM1)	NP_003850.1:n.678+325C>T
NR_110007.1:n.250+1996G>A (ADNP-AS1)
NR_110008.1:n.149+4374G>A (ADNP-AS1)
NR_110009.1:n.146+4374G>A (ADNP-AS1)
NR_133648.1:n.741+325C>T (DPM1)
NR_133648.2:n.709+325C>T (DPM1)
ENST00000371582.8:c.759+325C>T (DPM1)	ENSP00000360638.4:n.759+325C>T
ENST00000371584.8:c.781+325C>T (DPM1)
ENST00000371584.9:c.783+325C>T (DPM1)	ENSP00000360640.5:n.783+325C>T
ENST00000371588.9:c.678+325C>T (DPM1)	ENSP00000360644.5:n.678+325C>T
ENST00000466152.5:n.727+325C>T (DPM1)
ENST00000494752.1:n.448+325C>T (DPM1)
ENST00000681979.1:n.981C>T (DPM1)
ENST00000682366.1:n.1348C>T (DPM1)
ENST00000682713.1:n.1158+325C>T (DPM1)
ENST00000683048.1:c.*193+325C>T (DPM1)	ENSP00000506986.1:n.*193+325C>T
ENST00000683466.1:c.294+325C>T (DPM1)	ENSP00000507404.1:n.294+325C>T
ENST00000684193.1:n.1449+325C>T (DPM1)
ENST00000684708.1:n.1038C>T (DPM1)
XR_002958550.1:n.741+325C>T (DPM1)
XR_002958551.1:n.622+325C>T (DPM1)