Canonical Allele Identifier: CA321489590
Gene: UMODL1 HGNC NCBI
UMODL1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42102240G>T , CM000683.2:g.42102240G>T GRCh38
NC_000021.8:g.43522350G>T , CM000683.1:g.43522350G>T GRCh37
NC_000021.7:g.42395419G>T NCBI36
NG_055246.1:g.44282G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000408910.7:c.1261G>T (UMODL1) MANE Select ENSP00000386147.2:p.Val421Leu
ENST00000400421.6:c.878G>T (UMODL1)
ENST00000400424.6:c.1045G>T (UMODL1) ENSP00000383276.1:p.Val349Leu
ENST00000400427.5:c.1045G>T (UMODL1) ENSP00000383279.1:p.Val349Leu
ENST00000408910.6:c.1261G>T (UMODL1) ENSP00000386147.2:p.Val421Leu
ENST00000408989.6:c.1261G>T (UMODL1) ENSP00000386126.2:p.Val421Leu
ENST00000466434.5:c.922G>T (UMODL1)
ENST00000468982.5:c.865G>T (UMODL1)
ENST00000485357.1:c.854G>T (UMODL1)
ENST00000491559.5:c.1034G>T (UMODL1)
ENST00000497243.5:c.689G>T (UMODL1)
NM_001004416.2:c.1261G>T (UMODL1) NP_001004416.2:p.Val421Leu
NM_001199527.1:c.1045G>T (UMODL1) NP_001186456.1:p.Val349Leu
NM_001199528.2:c.1045G>T (UMODL1) NP_001186457.2:p.Val349Leu
NM_173568.3:c.1261G>T (UMODL1) NP_775839.3:p.Val421Leu
NR_027243.1:n.2035C>A (UMODL1-AS1)
XM_011529787.1:c.1045G>T (UMODL1) XP_011528089.1:p.Val349Leu
XM_011529788.1:c.1045G>T (UMODL1) XP_011528090.1:p.Val349Leu
XM_011529789.1:c.1045G>T (UMODL1) XP_011528091.1:p.Val349Leu
XM_011529790.1:c.949G>T (UMODL1) XP_011528092.1:p.Val317Leu
XM_011529791.1:c.949G>T (UMODL1) XP_011528093.1:p.Val317Leu
XM_011529793.1:c.949G>T (UMODL1) XP_011528095.1:p.Val317Leu
XM_011529794.1:c.949G>T (UMODL1) XP_011528096.1:p.Val317Leu
XM_011529795.1:c.949G>T (UMODL1) XP_011528097.1:p.Val317Leu
XM_011529796.1:c.1045G>T (UMODL1) XP_011528098.1:p.Val349Leu
XM_011529797.1:c.727G>T (UMODL1) XP_011528099.1:p.Val243Leu
XM_011529798.1:c.727G>T (UMODL1) XP_011528100.1:p.Val243Leu
XM_011529799.1:c.1045G>T (UMODL1) XP_011528101.1:p.Val349Leu
XM_011529800.1:c.664G>T (UMODL1) XP_011528102.1:p.Val222Leu
XM_011529802.1:c.-96G>T (UMODL1) XP_011528104.1:n.-96G>T
XM_011529803.1:c.1045G>T (UMODL1) XP_011528105.1:p.Val349Leu
XR_937578.1:n.1115G>T (UMODL1)
XR_937579.1:n.1115G>T (UMODL1)
XR_937580.1:n.1115G>T (UMODL1)
XM_017028506.1:c.1045G>T (UMODL1) XP_016883995.1:p.Val349Leu
XM_017028507.1:c.949G>T (UMODL1) XP_016883996.1:p.Val317Leu
NM_001199527.2:c.1045G>T (UMODL1) NP_001186456.2:p.Val349Leu
NM_001199528.3:c.1045G>T (UMODL1) NP_001186457.3:p.Val349Leu
NM_001004416.3:c.1261G>T (UMODL1) MANE Select NP_001004416.3:p.Val421Leu
NM_001199527.3:c.1045G>T (UMODL1) NP_001186456.2:p.Val349Leu
NM_001199528.4:c.1045G>T (UMODL1) NP_001186457.3:p.Val349Leu
NM_173568.4:c.1261G>T (UMODL1) NP_775839.4:p.Val421Leu