Canonical Allele Identifier: CA372794601
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1326485448
gnomAD v2: 9-2645694-T-C
gnomAD v4: 9-2645694-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645694T>C , CM000671.2:g.2645694T>C GRCh38
NC_000009.11:g.2645694T>C , CM000671.1:g.2645694T>C GRCh37
NC_000009.10:g.2635694T>C NCBI36
NG_012741.1:g.28902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.991T>C
ENST00000382100.8:c.1433T>C MANE Select ENSP00000371532.2:p.Ile478Thr
ENST00000478776.2:n.878T>C
ENST00000679718.1:n.669T>C
ENST00000679750.1:n.849T>C
ENST00000679851.1:n.1617T>C
ENST00000680021.1:n.1633T>C
ENST00000680043.1:c.985T>C
ENST00000680219.1:c.1000T>C
ENST00000680243.1:c.*1212T>C ENSP00000505911.1:n.*1212T>C
ENST00000680296.1:c.859T>C
ENST00000680332.1:n.516T>C
ENST00000680746.1:c.1310T>C ENSP00000505030.1:p.Ile437Thr
ENST00000680751.1:n.838T>C
ENST00000680891.1:c.*1225T>C ENSP00000505167.1:n.*1225T>C
ENST00000680975.1:n.818T>C
ENST00000681087.1:n.878T>C
ENST00000681306.1:c.1433T>C ENSP00000506072.1:p.Ile478Thr
ENST00000681618.1:c.1310T>C ENSP00000505773.1:p.Ile437Thr
ENST00000681644.1:c.*1105T>C ENSP00000505180.1:n.*1105T>C
ENST00000681806.1:c.1433T>C ENSP00000505282.1:p.Ile478Thr
ENST00000681942.1:c.981T>C
ENST00000382099.2:c.1433T>C ENSP00000371531.2:p.Ile478Thr
ENST00000382100.7:c.1433T>C ENSP00000371532.2:p.Ile478Thr
NM_001018056.1:c.1433T>C NP_001018066.1:p.Ile478Thr
NM_003383.3:c.1433T>C NP_003374.3:p.Ile478Thr
XM_011518029.1:c.1310T>C XP_011516331.1:p.Ile437Thr
NM_001018056.2:c.1433T>C NP_001018066.1:p.Ile478Thr
NM_001322225.1:c.1310T>C NP_001309154.1:p.Ile437Thr
NM_001322226.1:c.1310T>C NP_001309155.1:p.Ile437Thr
NM_003383.4:c.1433T>C NP_003374.3:p.Ile478Thr
XR_001746373.2:n.1837T>C
XR_002956805.1:n.1837T>C
NM_003383.5:c.1433T>C MANE Select NP_003374.3:p.Ile478Thr
NM_001018056.3:c.1433T>C NP_001018066.1:p.Ile478Thr
NM_001322225.2:c.1310T>C NP_001309154.1:p.Ile437Thr
NM_001322226.2:c.1310T>C NP_001309155.1:p.Ile437Thr