Canonical Allele Identifier: CA372794622
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645705A>T , CM000671.2:g.2645705A>T GRCh38
NC_000009.11:g.2645705A>T , CM000671.1:g.2645705A>T GRCh37
NC_000009.10:g.2635705A>T NCBI36
NG_012741.1:g.28913A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1002A>T
ENST00000382100.8:c.1444A>T MANE Select ENSP00000371532.2:p.Lys482Ter
ENST00000478776.2:n.889A>T
ENST00000679718.1:n.680A>T
ENST00000679750.1:n.860A>T
ENST00000679851.1:n.1628A>T
ENST00000680021.1:n.1644A>T
ENST00000680043.1:c.996A>T
ENST00000680219.1:c.1011A>T
ENST00000680243.1:c.*1223A>T ENSP00000505911.1:n.*1223A>T
ENST00000680296.1:c.870A>T
ENST00000680332.1:n.527A>T
ENST00000680746.1:c.1321A>T ENSP00000505030.1:p.Lys441Ter
ENST00000680751.1:n.849A>T
ENST00000680891.1:c.*1236A>T ENSP00000505167.1:n.*1236A>T
ENST00000680975.1:n.829A>T
ENST00000681087.1:n.889A>T
ENST00000681306.1:c.1444A>T ENSP00000506072.1:p.Lys482Ter
ENST00000681618.1:c.1321A>T ENSP00000505773.1:p.Lys441Ter
ENST00000681644.1:c.*1116A>T ENSP00000505180.1:n.*1116A>T
ENST00000681806.1:c.1444A>T ENSP00000505282.1:p.Lys482Ter
ENST00000681942.1:c.992A>T
ENST00000382099.2:c.1444A>T ENSP00000371531.2:p.Lys482Ter
ENST00000382100.7:c.1444A>T ENSP00000371532.2:p.Lys482Ter
NM_001018056.1:c.1444A>T NP_001018066.1:p.Lys482Ter
NM_003383.3:c.1444A>T NP_003374.3:p.Lys482Ter
XM_011518029.1:c.1321A>T XP_011516331.1:p.Lys441Ter
NM_001018056.2:c.1444A>T NP_001018066.1:p.Lys482Ter
NM_001322225.1:c.1321A>T NP_001309154.1:p.Lys441Ter
NM_001322226.1:c.1321A>T NP_001309155.1:p.Lys441Ter
NM_003383.4:c.1444A>T NP_003374.3:p.Lys482Ter
XR_001746373.2:n.1848A>T
XR_002956805.1:n.1848A>T
NM_003383.5:c.1444A>T MANE Select NP_003374.3:p.Lys482Ter
NM_001018056.3:c.1444A>T NP_001018066.1:p.Lys482Ter
NM_001322225.2:c.1321A>T NP_001309154.1:p.Lys441Ter
NM_001322226.2:c.1321A>T NP_001309155.1:p.Lys441Ter