Canonical Allele Identifier: CA372794269
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.877A>C
ENST00000382100.8:c.1319A>C MANE Select ENSP00000371532.2:p.Glu440Ala
ENST00000478776.2:n.764A>C
ENST00000679718.1:n.555A>C
ENST00000679750.1:n.735A>C
ENST00000679851.1:n.1503A>C
ENST00000680021.1:n.1519A>C
ENST00000680043.1:c.871A>C
ENST00000680219.1:c.886A>C
ENST00000680243.1:c.*1098A>C ENSP00000505911.1:n.*1098A>C
ENST00000680296.1:c.745A>C
ENST00000680332.1:n.402A>C
ENST00000680746.1:c.1196A>C ENSP00000505030.1:p.Glu399Ala
ENST00000680751.1:n.724A>C
ENST00000680891.1:c.*1111A>C ENSP00000505167.1:n.*1111A>C
ENST00000680975.1:n.704A>C
ENST00000681087.1:n.764A>C
ENST00000681306.1:c.1319A>C ENSP00000506072.1:p.Glu440Ala
ENST00000681618.1:c.1196A>C ENSP00000505773.1:p.Glu399Ala
ENST00000681644.1:c.*991A>C ENSP00000505180.1:n.*991A>C
ENST00000681806.1:c.1319A>C ENSP00000505282.1:p.Glu440Ala
ENST00000681942.1:c.867A>C
ENST00000382099.2:c.1319A>C ENSP00000371531.2:p.Glu440Ala
ENST00000382100.7:c.1319A>C ENSP00000371532.2:p.Glu440Ala
NM_001018056.1:c.1319A>C NP_001018066.1:p.Glu440Ala
NM_003383.3:c.1319A>C NP_003374.3:p.Glu440Ala
XM_011518029.1:c.1196A>C XP_011516331.1:p.Glu399Ala
NM_001018056.2:c.1319A>C NP_001018066.1:p.Glu440Ala
NM_001322225.1:c.1196A>C NP_001309154.1:p.Glu399Ala
NM_001322226.1:c.1196A>C NP_001309155.1:p.Glu399Ala
NM_003383.4:c.1319A>C NP_003374.3:p.Glu440Ala
XR_001746373.2:n.1723A>C
XR_002956805.1:n.1723A>C
NM_003383.5:c.1319A>C MANE Select NP_003374.3:p.Glu440Ala
NM_001018056.3:c.1319A>C NP_001018066.1:p.Glu440Ala
NM_001322225.2:c.1196A>C NP_001309154.1:p.Glu399Ala
NM_001322226.2:c.1196A>C NP_001309155.1:p.Glu399Ala