Canonical Allele Identifier: CA408989561
Community Standard Title: NM_003859.3(DPM1):c.397A>C (p.Arg133=)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50945738T>G , CM000682.2:g.50945738T>G GRCh38
NC_000020.10:g.49562275T>G , CM000682.1:g.49562275T>G GRCh37
NC_000020.9:g.48995682T>G NCBI36
NG_008923.1:g.17786A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.397A>C MANE Select NP_003850.1:p.Arg133=
ENST00000371588.10:c.397A>C MANE Select ENSP00000360644.5:p.Arg133=
NM_001317034.1:c.397A>C NP_001303963.1:p.Arg133=
NM_001317035.1:c.397A>C NP_001303964.1:p.Arg133=
NM_001317036.1:c.397A>C NP_001303965.1:p.Arg133=
NM_003859.1:c.397A>C NP_003850.1:p.Arg133=
NM_003859.2:c.397A>C NP_003850.1:p.Arg133=
NR_133648.1:n.438A>C
NR_133648.2:n.406A>C
ENST00000371582.8:c.397A>C ENSP00000360638.4:p.Arg133=
ENST00000371584.8:c.395A>C
ENST00000371584.9:c.397A>C ENSP00000360640.5:p.Arg133=
ENST00000371588.9:c.397A>C ENSP00000360644.5:p.Arg133=
ENST00000413082.1:c.397A>C ENSP00000394921.1:p.Ser133Arg
ENST00000466152.5:n.424A>C
ENST00000494752.1:n.40A>C
ENST00000681979.1:n.375A>C
ENST00000682713.1:n.946A>C
ENST00000682754.1:n.479A>C
ENST00000683010.1:n.2104A>C
ENST00000683048.1:c.372+109A>C ENSP00000506986.1:n.372+109A>C
ENST00000683466.1:c.82A>C ENSP00000507404.1:p.Arg28=
ENST00000684708.1:n.410A>C
XM_011529093.1:c.397A>C XP_011527395.1:p.Arg133=
XM_011529094.1:c.372+109A>C XP_011527396.1:n.372+109A>C
XR_002958550.1:n.435A>C
XR_002958551.1:n.411+109A>C