Canonical Allele Identifier: CA10039590
Community Standard Title: NM_001004416.3(UMODL1):c.1365C>T (p.Ile455=)
Gene: UMODL1 HGNC NCBI
UMODL1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42103933C>T , CM000683.2:g.42103933C>T GRCh38
NC_000021.8:g.43524043C>T , CM000683.1:g.43524043C>T GRCh37
NC_000021.7:g.42397112C>T NCBI36
NG_055246.1:g.45975C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001004416.3:c.1365C>T (UMODL1) MANE Select NP_001004416.3:p.Ile455=
ENST00000408910.7:c.1365C>T (UMODL1) MANE Select ENSP00000386147.2:p.Ile455=
NM_001004416.2:c.1365C>T (UMODL1) NP_001004416.2:p.Ile455=
NM_001199527.1:c.1149C>T (UMODL1) NP_001186456.1:p.Ile383=
NM_001199527.2:c.1149C>T (UMODL1) NP_001186456.2:p.Ile383=
NM_001199527.3:c.1149C>T (UMODL1) NP_001186456.2:p.Ile383=
NM_001199528.2:c.1149C>T (UMODL1) NP_001186457.2:p.Ile383=
NM_001199528.3:c.1149C>T (UMODL1) NP_001186457.3:p.Ile383=
NM_001199528.4:c.1149C>T (UMODL1) NP_001186457.3:p.Ile383=
NM_173568.3:c.1365C>T (UMODL1) NP_775839.3:p.Ile455=
NM_173568.4:c.1365C>T (UMODL1) NP_775839.4:p.Ile455=
NR_027243.1:n.342G>A (UMODL1-AS1)
ENST00000400421.6:c.982C>T (UMODL1)
ENST00000400424.6:c.1149C>T (UMODL1) ENSP00000383276.1:p.Ile383=
ENST00000400427.5:c.1149C>T (UMODL1) ENSP00000383279.1:p.Ile383=
ENST00000408910.6:c.1365C>T (UMODL1) ENSP00000386147.2:p.Ile455=
ENST00000408989.6:c.1365C>T (UMODL1) ENSP00000386126.2:p.Ile455=
ENST00000466434.5:c.1026C>T (UMODL1)
ENST00000468982.5:c.969C>T (UMODL1)
ENST00000485357.1:c.958C>T (UMODL1)
ENST00000491559.5:c.1138C>T (UMODL1)
ENST00000497243.5:c.793C>T (UMODL1)
XM_011529787.1:c.1149C>T (UMODL1) XP_011528089.1:p.Ile383=
XM_011529788.1:c.1149C>T (UMODL1) XP_011528090.1:p.Ile383=
XM_011529789.1:c.1149C>T (UMODL1) XP_011528091.1:p.Ile383=
XM_011529790.1:c.1053C>T (UMODL1) XP_011528092.1:p.Ile351=
XM_011529791.1:c.1053C>T (UMODL1) XP_011528093.1:p.Ile351=
XM_011529793.1:c.1053C>T (UMODL1) XP_011528095.1:p.Ile351=
XM_011529794.1:c.1053C>T (UMODL1) XP_011528096.1:p.Ile351=
XM_011529795.1:c.1053C>T (UMODL1) XP_011528097.1:p.Ile351=
XM_011529796.1:c.1149C>T (UMODL1) XP_011528098.1:p.Ile383=
XM_011529797.1:c.831C>T (UMODL1) XP_011528099.1:p.Ile277=
XM_011529798.1:c.831C>T (UMODL1) XP_011528100.1:p.Ile277=
XM_011529799.1:c.1149C>T (UMODL1) XP_011528101.1:p.Ile383=
XM_011529800.1:c.768C>T (UMODL1) XP_011528102.1:p.Ile256=
XM_011529802.1:c.9C>T (UMODL1) XP_011528104.1:p.Ile3=
XM_011529803.1:c.1149C>T (UMODL1) XP_011528105.1:p.Ile383=
XM_017028506.1:c.1149C>T (UMODL1) XP_016883995.1:p.Ile383=
XM_017028507.1:c.1053C>T (UMODL1) XP_016883996.1:p.Ile351=
XR_937578.1:n.1219C>T (UMODL1)
XR_937579.1:n.1219C>T (UMODL1)
XR_937580.1:n.1219C>T (UMODL1)