Canonical Allele Identifier: CA372794510
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1365512
ClinVar RCV Id: RCV001961840
dbSNP Id: rs34753566

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645651C>G , CM000671.2:g.2645651C>G GRCh38
NC_000009.11:g.2645651C>G , CM000671.1:g.2645651C>G GRCh37
NC_000009.10:g.2635651C>G NCBI36
NG_012741.1:g.28859C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.948C>G
ENST00000382100.8:c.1390C>G MANE Select ENSP00000371532.2:p.Leu464Val
ENST00000478776.2:n.835C>G
ENST00000679718.1:n.626C>G
ENST00000679750.1:n.806C>G
ENST00000679851.1:n.1574C>G
ENST00000680021.1:n.1590C>G
ENST00000680043.1:c.942C>G
ENST00000680219.1:c.957C>G
ENST00000680243.1:c.*1169C>G ENSP00000505911.1:n.*1169C>G
ENST00000680296.1:c.816C>G
ENST00000680332.1:n.473C>G
ENST00000680746.1:c.1267C>G ENSP00000505030.1:p.Leu423Val
ENST00000680751.1:n.795C>G
ENST00000680891.1:c.*1182C>G ENSP00000505167.1:n.*1182C>G
ENST00000680975.1:n.775C>G
ENST00000681087.1:n.835C>G
ENST00000681306.1:c.1390C>G ENSP00000506072.1:p.Leu464Val
ENST00000681618.1:c.1267C>G ENSP00000505773.1:p.Leu423Val
ENST00000681644.1:c.*1062C>G ENSP00000505180.1:n.*1062C>G
ENST00000681806.1:c.1390C>G ENSP00000505282.1:p.Leu464Val
ENST00000681942.1:c.938C>G
ENST00000382099.2:c.1390C>G ENSP00000371531.2:p.Leu464Val
ENST00000382100.7:c.1390C>G ENSP00000371532.2:p.Leu464Val
NM_001018056.1:c.1390C>G NP_001018066.1:p.Leu464Val
NM_003383.3:c.1390C>G NP_003374.3:p.Leu464Val
XM_011518029.1:c.1267C>G XP_011516331.1:p.Leu423Val
NM_001018056.2:c.1390C>G NP_001018066.1:p.Leu464Val
NM_001322225.1:c.1267C>G NP_001309154.1:p.Leu423Val
NM_001322226.1:c.1267C>G NP_001309155.1:p.Leu423Val
NM_003383.4:c.1390C>G NP_003374.3:p.Leu464Val
XR_001746373.2:n.1794C>G
XR_002956805.1:n.1794C>G
NM_003383.5:c.1390C>G MANE Select NP_003374.3:p.Leu464Val
NM_001018056.3:c.1390C>G NP_001018066.1:p.Leu464Val
NM_001322225.2:c.1267C>G NP_001309154.1:p.Leu423Val
NM_001322226.2:c.1267C>G NP_001309155.1:p.Leu423Val