Canonical Allele Identifier: CA372794273
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645580A>T , CM000671.2:g.2645580A>T GRCh38
NC_000009.11:g.2645580A>T , CM000671.1:g.2645580A>T GRCh37
NC_000009.10:g.2635580A>T NCBI36
NG_012741.1:g.28788A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.877A>T
ENST00000382100.8:c.1319A>T MANE Select ENSP00000371532.2:p.Glu440Val
ENST00000478776.2:n.764A>T
ENST00000679718.1:n.555A>T
ENST00000679750.1:n.735A>T
ENST00000679851.1:n.1503A>T
ENST00000680021.1:n.1519A>T
ENST00000680043.1:c.871A>T
ENST00000680219.1:c.886A>T
ENST00000680243.1:c.*1098A>T ENSP00000505911.1:n.*1098A>T
ENST00000680296.1:c.745A>T
ENST00000680332.1:n.402A>T
ENST00000680746.1:c.1196A>T ENSP00000505030.1:p.Glu399Val
ENST00000680751.1:n.724A>T
ENST00000680891.1:c.*1111A>T ENSP00000505167.1:n.*1111A>T
ENST00000680975.1:n.704A>T
ENST00000681087.1:n.764A>T
ENST00000681306.1:c.1319A>T ENSP00000506072.1:p.Glu440Val
ENST00000681618.1:c.1196A>T ENSP00000505773.1:p.Glu399Val
ENST00000681644.1:c.*991A>T ENSP00000505180.1:n.*991A>T
ENST00000681806.1:c.1319A>T ENSP00000505282.1:p.Glu440Val
ENST00000681942.1:c.867A>T
ENST00000382099.2:c.1319A>T ENSP00000371531.2:p.Glu440Val
ENST00000382100.7:c.1319A>T ENSP00000371532.2:p.Glu440Val
NM_001018056.1:c.1319A>T NP_001018066.1:p.Glu440Val
NM_003383.3:c.1319A>T NP_003374.3:p.Glu440Val
XM_011518029.1:c.1196A>T XP_011516331.1:p.Glu399Val
NM_001018056.2:c.1319A>T NP_001018066.1:p.Glu440Val
NM_001322225.1:c.1196A>T NP_001309154.1:p.Glu399Val
NM_001322226.1:c.1196A>T NP_001309155.1:p.Glu399Val
NM_003383.4:c.1319A>T NP_003374.3:p.Glu440Val
XR_001746373.2:n.1723A>T
XR_002956805.1:n.1723A>T
NM_003383.5:c.1319A>T MANE Select NP_003374.3:p.Glu440Val
NM_001018056.3:c.1319A>T NP_001018066.1:p.Glu440Val
NM_001322225.2:c.1196A>T NP_001309154.1:p.Glu399Val
NM_001322226.2:c.1196A>T NP_001309155.1:p.Glu399Val