Canonical Allele Identifier: CA372794375
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645604G>C , CM000671.2:g.2645604G>C GRCh38
NC_000009.11:g.2645604G>C , CM000671.1:g.2645604G>C GRCh37
NC_000009.10:g.2635604G>C NCBI36
NG_012741.1:g.28812G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382099.3:c.901G>C
ENST00000382100.8:c.1343G>C MANE Select ENSP00000371532.2:p.Arg448Pro
ENST00000478776.2:n.788G>C
ENST00000679718.1:n.579G>C
ENST00000679750.1:n.759G>C
ENST00000679851.1:n.1527G>C
ENST00000680021.1:n.1543G>C
ENST00000680043.1:c.895G>C
ENST00000680219.1:c.910G>C
ENST00000680243.1:c.*1122G>C ENSP00000505911.1:n.*1122G>C
ENST00000680296.1:c.769G>C
ENST00000680332.1:n.426G>C
ENST00000680746.1:c.1220G>C ENSP00000505030.1:p.Arg407Pro
ENST00000680751.1:n.748G>C
ENST00000680891.1:c.*1135G>C ENSP00000505167.1:n.*1135G>C
ENST00000680975.1:n.728G>C
ENST00000681087.1:n.788G>C
ENST00000681306.1:c.1343G>C ENSP00000506072.1:p.Arg448Pro
ENST00000681618.1:c.1220G>C ENSP00000505773.1:p.Arg407Pro
ENST00000681644.1:c.*1015G>C ENSP00000505180.1:n.*1015G>C
ENST00000681806.1:c.1343G>C ENSP00000505282.1:p.Arg448Pro
ENST00000681942.1:c.891G>C
ENST00000382099.2:c.1343G>C ENSP00000371531.2:p.Arg448Pro
ENST00000382100.7:c.1343G>C ENSP00000371532.2:p.Arg448Pro
NM_001018056.1:c.1343G>C NP_001018066.1:p.Arg448Pro
NM_003383.3:c.1343G>C NP_003374.3:p.Arg448Pro
XM_011518029.1:c.1220G>C XP_011516331.1:p.Arg407Pro
NM_001018056.2:c.1343G>C NP_001018066.1:p.Arg448Pro
NM_001322225.1:c.1220G>C NP_001309154.1:p.Arg407Pro
NM_001322226.1:c.1220G>C NP_001309155.1:p.Arg407Pro
NM_003383.4:c.1343G>C NP_003374.3:p.Arg448Pro
XR_001746373.2:n.1747G>C
XR_002956805.1:n.1747G>C
NM_003383.5:c.1343G>C MANE Select NP_003374.3:p.Arg448Pro
NM_001018056.3:c.1343G>C NP_001018066.1:p.Arg448Pro
NM_001322225.2:c.1220G>C NP_001309154.1:p.Arg407Pro
NM_001322226.2:c.1220G>C NP_001309155.1:p.Arg407Pro