Canonical Allele Identifier: CA9909265
Community Standard Title: NM_003859.3(DPM1):c.30T>C (p.Pro10=)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50958494A>G , CM000682.2:g.50958494A>G GRCh38
NC_000020.10:g.49575031A>G , CM000682.1:g.49575031A>G GRCh37
NC_000020.9:g.49008438A>G NCBI36
NG_008923.1:g.5030T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.30T>C MANE Select NP_003850.1:p.Pro10=
ENST00000371588.10:c.30T>C MANE Select ENSP00000360644.5:p.Pro10=
NM_001317034.1:c.30T>C NP_001303963.1:p.Pro10=
NM_001317035.1:c.30T>C NP_001303964.1:p.Pro10=
NM_001317036.1:c.30T>C NP_001303965.1:p.Pro10=
NM_003859.1:c.30T>C NP_003850.1:p.Pro10=
NM_003859.2:c.30T>C NP_003850.1:p.Pro10=
NR_133648.1:n.71T>C
NR_133648.2:n.39T>C
ENST00000371582.8:c.30T>C ENSP00000360638.4:p.Pro10=
ENST00000371584.8:c.28T>C
ENST00000371584.9:c.30T>C ENSP00000360640.5:p.Pro10=
ENST00000371588.9:c.30T>C ENSP00000360644.5:p.Pro10=
ENST00000413082.1:c.30T>C ENSP00000394921.1:p.Pro10=
ENST00000466152.5:n.57T>C
ENST00000682754.1:n.28T>C
ENST00000683048.1:c.30T>C ENSP00000506986.1:p.Pro10=
ENST00000683466.1:c.-155+247T>C ENSP00000507404.1:n.-155+247T>C
ENST00000684628.1:n.39T>C
XM_011529093.1:c.30T>C XP_011527395.1:p.Pro10=
XM_011529094.1:c.30T>C XP_011527396.1:p.Pro10=
XR_002958550.1:n.68T>C
XR_002958551.1:n.69T>C