Canonical Allele Identifier: CA9909101
Community Standard Title: NM_003859.3(DPM1):c.456A>G (p.Gly152=)
Gene: DPM1 HGNC NCBI
ADNP-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50942069T>C , CM000682.2:g.50942069T>C GRCh38
NC_000020.10:g.49558606T>C , CM000682.1:g.49558606T>C GRCh37
NC_000020.9:g.48992013T>C NCBI36
NG_008923.1:g.21455A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.456A>G (DPM1) MANE Select NP_003850.1:p.Gly152=
ENST00000371588.10:c.456A>G (DPM1) MANE Select ENSP00000360644.5:p.Gly152=
NM_001317034.1:c.456A>G (DPM1) NP_001303963.1:p.Gly152=
NM_001317035.1:c.456A>G (DPM1) NP_001303964.1:p.Gly152=
NM_001317036.1:c.456A>G (DPM1) NP_001303965.1:p.Gly152=
NM_003859.1:c.456A>G (DPM1) NP_003850.1:p.Gly152=
NM_003859.2:c.456A>G (DPM1) NP_003850.1:p.Gly152=
NR_110007.1:n.251-2288T>C (ADNP-AS1)
NR_110008.1:n.150-2288T>C (ADNP-AS1)
NR_110009.1:n.147-2288T>C (ADNP-AS1)
NR_133648.1:n.497A>G (DPM1)
NR_133648.2:n.465A>G (DPM1)
ENST00000371582.8:c.456A>G (DPM1) ENSP00000360638.4:p.Gly152=
ENST00000371584.8:c.454A>G (DPM1)
ENST00000371584.9:c.456A>G (DPM1) ENSP00000360640.5:p.Gly152=
ENST00000371588.9:c.456A>G (DPM1) ENSP00000360644.5:p.Gly152=
ENST00000413082.1:c.399-860A>G (DPM1) ENSP00000394921.1:n.399-860A>G
ENST00000466152.5:n.483A>G (DPM1)
ENST00000494752.1:n.99A>G (DPM1)
ENST00000681979.1:n.434A>G (DPM1)
ENST00000682366.1:n.801A>G (DPM1)
ENST00000682713.1:n.1005A>G (DPM1)
ENST00000682754.1:n.538A>G (DPM1)
ENST00000683010.1:n.2163A>G (DPM1)
ENST00000683048.1:c.*40A>G (DPM1) ENSP00000506986.1:n.*40A>G
ENST00000683466.1:c.141A>G (DPM1) ENSP00000507404.1:p.Gly47=
ENST00000684193.1:n.1205A>G (DPM1)
ENST00000684708.1:n.469A>G (DPM1)
XM_011529093.1:c.456A>G (DPM1) XP_011527395.1:p.Gly152=
XM_011529094.1:c.*40A>G (DPM1) XP_011527396.1:n.*40A>G
XR_002958550.1:n.494A>G (DPM1)
XR_002958551.1:n.469A>G (DPM1)