Canonical Allele Identifier: CA372794562
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645676T>A , CM000671.2:g.2645676T>A GRCh38
NC_000009.11:g.2645676T>A , CM000671.1:g.2645676T>A GRCh37
NC_000009.10:g.2635676T>A NCBI36
NG_012741.1:g.28884T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.973T>A
ENST00000382100.8:c.1415T>A MANE Select ENSP00000371532.2:p.Val472Glu
ENST00000478776.2:n.860T>A
ENST00000679718.1:n.651T>A
ENST00000679750.1:n.831T>A
ENST00000679851.1:n.1599T>A
ENST00000680021.1:n.1615T>A
ENST00000680043.1:c.967T>A
ENST00000680219.1:c.982T>A
ENST00000680243.1:c.*1194T>A ENSP00000505911.1:n.*1194T>A
ENST00000680296.1:c.841T>A
ENST00000680332.1:n.498T>A
ENST00000680746.1:c.1292T>A ENSP00000505030.1:p.Val431Glu
ENST00000680751.1:n.820T>A
ENST00000680891.1:c.*1207T>A ENSP00000505167.1:n.*1207T>A
ENST00000680975.1:n.800T>A
ENST00000681087.1:n.860T>A
ENST00000681306.1:c.1415T>A ENSP00000506072.1:p.Val472Glu
ENST00000681618.1:c.1292T>A ENSP00000505773.1:p.Val431Glu
ENST00000681644.1:c.*1087T>A ENSP00000505180.1:n.*1087T>A
ENST00000681806.1:c.1415T>A ENSP00000505282.1:p.Val472Glu
ENST00000681942.1:c.963T>A
ENST00000382099.2:c.1415T>A ENSP00000371531.2:p.Val472Glu
ENST00000382100.7:c.1415T>A ENSP00000371532.2:p.Val472Glu
NM_001018056.1:c.1415T>A NP_001018066.1:p.Val472Glu
NM_003383.3:c.1415T>A NP_003374.3:p.Val472Glu
XM_011518029.1:c.1292T>A XP_011516331.1:p.Val431Glu
NM_001018056.2:c.1415T>A NP_001018066.1:p.Val472Glu
NM_001322225.1:c.1292T>A NP_001309154.1:p.Val431Glu
NM_001322226.1:c.1292T>A NP_001309155.1:p.Val431Glu
NM_003383.4:c.1415T>A NP_003374.3:p.Val472Glu
XR_001746373.2:n.1819T>A
XR_002956805.1:n.1819T>A
NM_003383.5:c.1415T>A MANE Select NP_003374.3:p.Val472Glu
NM_001018056.3:c.1415T>A NP_001018066.1:p.Val472Glu
NM_001322225.2:c.1292T>A NP_001309154.1:p.Val431Glu
NM_001322226.2:c.1292T>A NP_001309155.1:p.Val431Glu