Canonical Allele Identifier: CA9909286
Community Standard Title: NM_003859.3(DPM1):c.1A>G (p.Met1Val)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50958523T>C , CM000682.2:g.50958523T>C GRCh38
NC_000020.10:g.49575060T>C , CM000682.1:g.49575060T>C GRCh37
NC_000020.9:g.49008467T>C NCBI36
NG_008923.1:g.5001A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.1A>G MANE Select NP_003850.1:p.Met1Val
ENST00000371588.10:c.1A>G MANE Select ENSP00000360644.5:p.Met1Val
NM_001317034.1:c.1A>G NP_001303963.1:p.Met1Val
NM_001317035.1:c.1A>G NP_001303964.1:p.Met1Val
NM_001317036.1:c.1A>G NP_001303965.1:p.Met1Val
NM_003859.1:c.1A>G NP_003850.1:p.Met1Val
NM_003859.2:c.1A>G NP_003850.1:p.Met1Val
NR_133648.1:n.42A>G
NR_133648.2:n.10A>G
ENST00000371582.8:c.1A>G ENSP00000360638.4:p.Met1Val
ENST00000371584.9:c.1A>G ENSP00000360640.5:p.Met1Val
ENST00000371588.9:c.1A>G ENSP00000360644.5:p.Met1Val
ENST00000413082.1:c.1A>G ENSP00000394921.1:p.Met1Val
ENST00000466152.5:n.28A>G
ENST00000683048.1:c.1A>G ENSP00000506986.1:p.Met1Val
ENST00000683466.1:c.-155+218A>G ENSP00000507404.1:n.-155+218A>G
ENST00000684628.1:n.10A>G
XM_011529093.1:c.1A>G XP_011527395.1:p.Met1Val
XM_011529094.1:c.1A>G XP_011527396.1:p.Met1Val
XR_002958550.1:n.39A>G
XR_002958551.1:n.40A>G