Canonical Allele Identifier: CA10039519
Community Standard Title: NM_001004416.3(UMODL1):c.1270C>G (p.Gln424Glu)
Gene: UMODL1 HGNC NCBI
UMODL1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42102249C>G , CM000683.2:g.42102249C>G GRCh38
NC_000021.8:g.43522359C>G , CM000683.1:g.43522359C>G GRCh37
NC_000021.7:g.42395428C>G NCBI36
NG_055246.1:g.44291C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001004416.3:c.1270C>G (UMODL1) MANE Select NP_001004416.3:p.Gln424Glu
ENST00000408910.7:c.1270C>G (UMODL1) MANE Select ENSP00000386147.2:p.Gln424Glu
NM_001004416.2:c.1270C>G (UMODL1) NP_001004416.2:p.Gln424Glu
NM_001199527.1:c.1054C>G (UMODL1) NP_001186456.1:p.Gln352Glu
NM_001199527.2:c.1054C>G (UMODL1) NP_001186456.2:p.Gln352Glu
NM_001199527.3:c.1054C>G (UMODL1) NP_001186456.2:p.Gln352Glu
NM_001199528.2:c.1054C>G (UMODL1) NP_001186457.2:p.Gln352Glu
NM_001199528.3:c.1054C>G (UMODL1) NP_001186457.3:p.Gln352Glu
NM_001199528.4:c.1054C>G (UMODL1) NP_001186457.3:p.Gln352Glu
NM_173568.3:c.1270C>G (UMODL1) NP_775839.3:p.Gln424Glu
NM_173568.4:c.1270C>G (UMODL1) NP_775839.4:p.Gln424Glu
NR_027243.1:n.2026G>C (UMODL1-AS1)
ENST00000400421.6:c.887C>G (UMODL1)
ENST00000400424.6:c.1054C>G (UMODL1) ENSP00000383276.1:p.Gln352Glu
ENST00000400427.5:c.1054C>G (UMODL1) ENSP00000383279.1:p.Gln352Glu
ENST00000408910.6:c.1270C>G (UMODL1) ENSP00000386147.2:p.Gln424Glu
ENST00000408989.6:c.1270C>G (UMODL1) ENSP00000386126.2:p.Gln424Glu
ENST00000466434.5:c.931C>G (UMODL1)
ENST00000468982.5:c.874C>G (UMODL1)
ENST00000485357.1:c.863C>G (UMODL1)
ENST00000491559.5:c.1043C>G (UMODL1)
ENST00000497243.5:c.698C>G (UMODL1)
XM_011529787.1:c.1054C>G (UMODL1) XP_011528089.1:p.Gln352Glu
XM_011529788.1:c.1054C>G (UMODL1) XP_011528090.1:p.Gln352Glu
XM_011529789.1:c.1054C>G (UMODL1) XP_011528091.1:p.Gln352Glu
XM_011529790.1:c.958C>G (UMODL1) XP_011528092.1:p.Gln320Glu
XM_011529791.1:c.958C>G (UMODL1) XP_011528093.1:p.Gln320Glu
XM_011529793.1:c.958C>G (UMODL1) XP_011528095.1:p.Gln320Glu
XM_011529794.1:c.958C>G (UMODL1) XP_011528096.1:p.Gln320Glu
XM_011529795.1:c.958C>G (UMODL1) XP_011528097.1:p.Gln320Glu
XM_011529796.1:c.1054C>G (UMODL1) XP_011528098.1:p.Gln352Glu
XM_011529797.1:c.736C>G (UMODL1) XP_011528099.1:p.Gln246Glu
XM_011529798.1:c.736C>G (UMODL1) XP_011528100.1:p.Gln246Glu
XM_011529799.1:c.1054C>G (UMODL1) XP_011528101.1:p.Gln352Glu
XM_011529800.1:c.673C>G (UMODL1) XP_011528102.1:p.Gln225Glu
XM_011529802.1:c.-87C>G (UMODL1) XP_011528104.1:n.-87C>G
XM_011529803.1:c.1054C>G (UMODL1) XP_011528105.1:p.Gln352Glu
XM_017028506.1:c.1054C>G (UMODL1) XP_016883995.1:p.Gln352Glu
XM_017028507.1:c.958C>G (UMODL1) XP_016883996.1:p.Gln320Glu
XR_937578.1:n.1124C>G (UMODL1)
XR_937579.1:n.1124C>G (UMODL1)
XR_937580.1:n.1124C>G (UMODL1)