Canonical Allele Identifier: CA372794573
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645682T>A , CM000671.2:g.2645682T>A GRCh38
NC_000009.11:g.2645682T>A , CM000671.1:g.2645682T>A GRCh37
NC_000009.10:g.2635682T>A NCBI36
NG_012741.1:g.28890T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.979T>A
ENST00000382100.8:c.1421T>A MANE Select ENSP00000371532.2:p.Leu474His
ENST00000478776.2:n.866T>A
ENST00000679718.1:n.657T>A
ENST00000679750.1:n.837T>A
ENST00000679851.1:n.1605T>A
ENST00000680021.1:n.1621T>A
ENST00000680043.1:c.973T>A
ENST00000680219.1:c.988T>A
ENST00000680243.1:c.*1200T>A ENSP00000505911.1:n.*1200T>A
ENST00000680296.1:c.847T>A
ENST00000680332.1:n.504T>A
ENST00000680746.1:c.1298T>A ENSP00000505030.1:p.Leu433His
ENST00000680751.1:n.826T>A
ENST00000680891.1:c.*1213T>A ENSP00000505167.1:n.*1213T>A
ENST00000680975.1:n.806T>A
ENST00000681087.1:n.866T>A
ENST00000681306.1:c.1421T>A ENSP00000506072.1:p.Leu474His
ENST00000681618.1:c.1298T>A ENSP00000505773.1:p.Leu433His
ENST00000681644.1:c.*1093T>A ENSP00000505180.1:n.*1093T>A
ENST00000681806.1:c.1421T>A ENSP00000505282.1:p.Leu474His
ENST00000681942.1:c.969T>A
ENST00000382099.2:c.1421T>A ENSP00000371531.2:p.Leu474His
ENST00000382100.7:c.1421T>A ENSP00000371532.2:p.Leu474His
NM_001018056.1:c.1421T>A NP_001018066.1:p.Leu474His
NM_003383.3:c.1421T>A NP_003374.3:p.Leu474His
XM_011518029.1:c.1298T>A XP_011516331.1:p.Leu433His
NM_001018056.2:c.1421T>A NP_001018066.1:p.Leu474His
NM_001322225.1:c.1298T>A NP_001309154.1:p.Leu433His
NM_001322226.1:c.1298T>A NP_001309155.1:p.Leu433His
NM_003383.4:c.1421T>A NP_003374.3:p.Leu474His
XR_001746373.2:n.1825T>A
XR_002956805.1:n.1825T>A
NM_003383.5:c.1421T>A MANE Select NP_003374.3:p.Leu474His
NM_001018056.3:c.1421T>A NP_001018066.1:p.Leu474His
NM_001322225.2:c.1298T>A NP_001309154.1:p.Leu433His
NM_001322226.2:c.1298T>A NP_001309155.1:p.Leu433His