Canonical Allele Identifier: CA408988552

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940907A>C , CM000682.2:g.50940907A>C	GRCh38
NC_000020.10:g.49557444A>C , CM000682.1:g.49557444A>C	GRCh37
NC_000020.9:g.48990851A>C	NCBI36
NG_008923.1:g.22617T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.521T>G (DPM1) MANE Select	NP_003850.1:p.Ile174Ser
ENST00000371588.10:c.521T>G (DPM1) MANE Select	ENSP00000360644.5:p.Ile174Ser
NM_001317034.1:c.626T>G (DPM1)	NP_001303963.1:p.Ile209Ser
NM_001317035.1:c.602T>G (DPM1)	NP_001303964.1:p.Ile201Ser
NM_001317036.1:c.494+1124T>G (DPM1)	NP_001303965.1:n.494+1124T>G
NM_003859.1:c.521T>G (DPM1)	NP_003850.1:p.Ile174Ser
NM_003859.2:c.521T>G (DPM1)	NP_003850.1:p.Ile174Ser
NR_110007.1:n.251-3450A>C (ADNP-AS1)
NR_110008.1:n.150-3450A>C (ADNP-AS1)
NR_110009.1:n.147-3450A>C (ADNP-AS1)
NR_133648.1:n.584T>G (DPM1)
NR_133648.2:n.552T>G (DPM1)
ENST00000371582.8:c.602T>G (DPM1)	ENSP00000360638.4:p.Ile201Ser
ENST00000371584.8:c.624T>G (DPM1)
ENST00000371584.9:c.626T>G (DPM1)	ENSP00000360640.5:p.Ile209Ser
ENST00000371588.9:c.521T>G (DPM1)	ENSP00000360644.5:p.Ile174Ser
ENST00000413082.1:c.506T>G (DPM1)	ENSP00000394921.1:p.Ile169Ser
ENST00000466152.5:n.570T>G (DPM1)
ENST00000494752.1:n.291T>G (DPM1)
ENST00000681979.1:n.499T>G (DPM1)
ENST00000682366.1:n.866T>G (DPM1)
ENST00000682713.1:n.1043+1124T>G (DPM1)
ENST00000682754.1:n.625T>G (DPM1)
ENST00000683010.1:n.2250T>G (DPM1)
ENST00000683048.1:c.*78+1124T>G (DPM1)	ENSP00000506986.1:n.*78+1124T>G
ENST00000683466.1:c.179+1124T>G (DPM1)	ENSP00000507404.1:n.179+1124T>G
ENST00000684193.1:n.1292T>G (DPM1)
ENST00000684708.1:n.556T>G (DPM1)
XM_011529093.1:c.546T>G (DPM1)	XP_011527395.1:p.Asp182Glu
XR_002958550.1:n.584T>G (DPM1)
XR_002958551.1:n.507+1124T>G (DPM1)