Canonical Allele Identifier: CA342001
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 21381
ClinVar RCV Id: RCV000020555
dbSNP Id: rs80338905

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645603C>T , CM000671.2:g.2645603C>T GRCh38
NC_000009.11:g.2645603C>T , CM000671.1:g.2645603C>T GRCh37
NC_000009.10:g.2635603C>T NCBI36
NG_012741.1:g.28811C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382099.3:c.900C>T
ENST00000382100.8:c.1342C>T MANE Select ENSP00000371532.2:p.Arg448Ter
ENST00000478776.2:n.787C>T
ENST00000679718.1:n.578C>T
ENST00000679750.1:n.758C>T
ENST00000679851.1:n.1526C>T
ENST00000680021.1:n.1542C>T
ENST00000680043.1:c.894C>T
ENST00000680219.1:c.909C>T
ENST00000680243.1:c.*1121C>T ENSP00000505911.1:n.*1121C>T
ENST00000680296.1:c.768C>T
ENST00000680332.1:n.425C>T
ENST00000680746.1:c.1219C>T ENSP00000505030.1:p.Arg407Ter
ENST00000680751.1:n.747C>T
ENST00000680891.1:c.*1134C>T ENSP00000505167.1:n.*1134C>T
ENST00000680975.1:n.727C>T
ENST00000681087.1:n.787C>T
ENST00000681306.1:c.1342C>T ENSP00000506072.1:p.Arg448Ter
ENST00000681618.1:c.1219C>T ENSP00000505773.1:p.Arg407Ter
ENST00000681644.1:c.*1014C>T ENSP00000505180.1:n.*1014C>T
ENST00000681806.1:c.1342C>T ENSP00000505282.1:p.Arg448Ter
ENST00000681942.1:c.890C>T
ENST00000382099.2:c.1342C>T ENSP00000371531.2:p.Arg448Ter
ENST00000382100.7:c.1342C>T ENSP00000371532.2:p.Arg448Ter
NM_001018056.1:c.1342C>T NP_001018066.1:p.Arg448Ter
NM_003383.3:c.1342C>T NP_003374.3:p.Arg448Ter
XM_011518029.1:c.1219C>T XP_011516331.1:p.Arg407Ter
NM_001018056.2:c.1342C>T NP_001018066.1:p.Arg448Ter
NM_001322225.1:c.1219C>T NP_001309154.1:p.Arg407Ter
NM_001322226.1:c.1219C>T NP_001309155.1:p.Arg407Ter
NM_003383.4:c.1342C>T NP_003374.3:p.Arg448Ter
XR_001746373.2:n.1746C>T
XR_002956805.1:n.1746C>T
NM_003383.5:c.1342C>T MANE Select NP_003374.3:p.Arg448Ter
NM_001018056.3:c.1342C>T NP_001018066.1:p.Arg448Ter
NM_001322225.2:c.1219C>T NP_001309154.1:p.Arg407Ter
NM_001322226.2:c.1219C>T NP_001309155.1:p.Arg407Ter