Canonical Allele Identifier: CA4964825
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs764276250
gnomAD v2: 9-2645675-G-A
gnomAD v3: 9-2645675-G-A
gnomAD v4: 9-2645675-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645675G>A , CM000671.2:g.2645675G>A GRCh38
NC_000009.11:g.2645675G>A , CM000671.1:g.2645675G>A GRCh37
NC_000009.10:g.2635675G>A NCBI36
NG_012741.1:g.28883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.972G>A
ENST00000382100.8:c.1414G>A MANE Select ENSP00000371532.2:p.Val472Met
ENST00000478776.2:n.859G>A
ENST00000679718.1:n.650G>A
ENST00000679750.1:n.830G>A
ENST00000679851.1:n.1598G>A
ENST00000680021.1:n.1614G>A
ENST00000680043.1:c.966G>A
ENST00000680219.1:c.981G>A
ENST00000680243.1:c.*1193G>A ENSP00000505911.1:n.*1193G>A
ENST00000680296.1:c.840G>A
ENST00000680332.1:n.497G>A
ENST00000680746.1:c.1291G>A ENSP00000505030.1:p.Val431Met
ENST00000680751.1:n.819G>A
ENST00000680891.1:c.*1206G>A ENSP00000505167.1:n.*1206G>A
ENST00000680975.1:n.799G>A
ENST00000681087.1:n.859G>A
ENST00000681306.1:c.1414G>A ENSP00000506072.1:p.Val472Met
ENST00000681618.1:c.1291G>A ENSP00000505773.1:p.Val431Met
ENST00000681644.1:c.*1086G>A ENSP00000505180.1:n.*1086G>A
ENST00000681806.1:c.1414G>A ENSP00000505282.1:p.Val472Met
ENST00000681942.1:c.962G>A
ENST00000382099.2:c.1414G>A ENSP00000371531.2:p.Val472Met
ENST00000382100.7:c.1414G>A ENSP00000371532.2:p.Val472Met
NM_001018056.1:c.1414G>A NP_001018066.1:p.Val472Met
NM_003383.3:c.1414G>A NP_003374.3:p.Val472Met
XM_011518029.1:c.1291G>A XP_011516331.1:p.Val431Met
NM_001018056.2:c.1414G>A NP_001018066.1:p.Val472Met
NM_001322225.1:c.1291G>A NP_001309154.1:p.Val431Met
NM_001322226.1:c.1291G>A NP_001309155.1:p.Val431Met
NM_003383.4:c.1414G>A NP_003374.3:p.Val472Met
XR_001746373.2:n.1818G>A
XR_002956805.1:n.1818G>A
NM_003383.5:c.1414G>A MANE Select NP_003374.3:p.Val472Met
NM_001018056.3:c.1414G>A NP_001018066.1:p.Val472Met
NM_001322225.2:c.1291G>A NP_001309154.1:p.Val431Met
NM_001322226.2:c.1291G>A NP_001309155.1:p.Val431Met