Canonical Allele Identifier: CA9908998

Gene: DPM1 ADNP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50935230T>C , CM000682.2:g.50935230T>C	GRCh38
NC_000020.10:g.49551767T>C , CM000682.1:g.49551767T>C	GRCh37
NC_000020.9:g.48985174T>C	NCBI36
NG_008923.1:g.28294A>G
NG_034200.1:g.761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.790A>G (DPM1)	ENSP00000360640.5:p.Ile264Val
ENST00000682366.1:n.1941A>G (DPM1)
ENST00000682713.1:n.1165A>G (DPM1)
ENST00000683048.1:c.*200A>G (DPM1)	ENSP00000506986.1:n.*200A>G
ENST00000683466.1:c.301A>G (DPM1)	ENSP00000507404.1:p.Ile101Val
ENST00000684193.1:n.1456A>G (DPM1)
ENST00000371588.10:c.685A>G (DPM1) MANE Select	ENSP00000360644.5:p.Ile229Val
ENST00000371582.8:c.766A>G (DPM1)	ENSP00000360638.4:p.Ile256Val
ENST00000371584.8:c.788A>G (DPM1)
ENST00000371588.9:c.685A>G (DPM1)	ENSP00000360644.5:p.Ile229Val
ENST00000466152.5:n.734A>G (DPM1)
ENST00000494752.1:n.455A>G (DPM1)
NM_001317034.1:c.790A>G (DPM1)	NP_001303963.1:p.Ile264Val
NM_001317035.1:c.766A>G (DPM1)	NP_001303964.1:p.Ile256Val
NM_001317036.1:c.616A>G (DPM1)	NP_001303965.1:p.Ile206Val
NM_003859.1:c.685A>G (DPM1)	NP_003850.1:p.Ile229Val
NM_003859.2:c.685A>G (DPM1)	NP_003850.1:p.Ile229Val
NR_110007.1:n.250+1403T>C (ADNP-AS1)
NR_110008.1:n.149+3781T>C (ADNP-AS1)
NR_110009.1:n.146+3781T>C (ADNP-AS1)
NR_133648.1:n.748A>G (DPM1)
XR_002958550.1:n.748A>G (DPM1)
XR_002958551.1:n.629A>G (DPM1)
NM_003859.3:c.685A>G (DPM1) MANE Select	NP_003850.1:p.Ile229Val
NR_133648.2:n.716A>G (DPM1)