Canonical Allele Identifier: CA408988651

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50940933G>C , CM000682.2:g.50940933G>C	GRCh38
NC_000020.10:g.49557470G>C , CM000682.1:g.49557470G>C	GRCh37
NC_000020.9:g.48990877G>C	NCBI36
NG_008923.1:g.22591C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.495C>G (DPM1) MANE Select	NP_003850.1:p.Ser165Arg
ENST00000371588.10:c.495C>G (DPM1) MANE Select	ENSP00000360644.5:p.Ser165Arg
NM_001317034.1:c.600C>G (DPM1)	NP_001303963.1:p.Ser200Arg
NM_001317035.1:c.576C>G (DPM1)	NP_001303964.1:p.Ser192Arg
NM_001317036.1:c.494+1098C>G (DPM1)	NP_001303965.1:n.494+1098C>G
NM_003859.1:c.495C>G (DPM1)	NP_003850.1:p.Ser165Arg
NM_003859.2:c.495C>G (DPM1)	NP_003850.1:p.Ser165Arg
NR_110007.1:n.251-3424G>C (ADNP-AS1)
NR_110008.1:n.150-3424G>C (ADNP-AS1)
NR_110009.1:n.147-3424G>C (ADNP-AS1)
NR_133648.1:n.558C>G (DPM1)
NR_133648.2:n.526C>G (DPM1)
ENST00000371582.8:c.576C>G (DPM1)	ENSP00000360638.4:p.Ser192Arg
ENST00000371584.8:c.598C>G (DPM1)
ENST00000371584.9:c.600C>G (DPM1)	ENSP00000360640.5:p.Ser200Arg
ENST00000371588.9:c.495C>G (DPM1)	ENSP00000360644.5:p.Ser165Arg
ENST00000413082.1:c.480C>G (DPM1)	ENSP00000394921.1:p.Ser160Arg
ENST00000466152.5:n.544C>G (DPM1)
ENST00000494752.1:n.265C>G (DPM1)
ENST00000681979.1:n.473C>G (DPM1)
ENST00000682366.1:n.840C>G (DPM1)
ENST00000682713.1:n.1043+1098C>G (DPM1)
ENST00000682754.1:n.599C>G (DPM1)
ENST00000683010.1:n.2224C>G (DPM1)
ENST00000683048.1:c.*78+1098C>G (DPM1)	ENSP00000506986.1:n.*78+1098C>G
ENST00000683466.1:c.179+1098C>G (DPM1)	ENSP00000507404.1:n.179+1098C>G
ENST00000684193.1:n.1266C>G (DPM1)
ENST00000684708.1:n.530C>G (DPM1)
XM_011529093.1:c.520C>G (DPM1)	XP_011527395.1:p.Pro174Ala
XR_002958550.1:n.558C>G (DPM1)
XR_002958551.1:n.507+1098C>G (DPM1)