Canonical Allele Identifier: CA372794633
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645711T>G , CM000671.2:g.2645711T>G GRCh38
NC_000009.11:g.2645711T>G , CM000671.1:g.2645711T>G GRCh37
NC_000009.10:g.2635711T>G NCBI36
NG_012741.1:g.28919T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1008T>G
ENST00000382100.8:c.1450T>G MANE Select ENSP00000371532.2:p.Phe484Val
ENST00000478776.2:n.895T>G
ENST00000679718.1:n.686T>G
ENST00000679750.1:n.866T>G
ENST00000679851.1:n.1634T>G
ENST00000680021.1:n.1650T>G
ENST00000680043.1:c.1002T>G
ENST00000680219.1:c.1017T>G
ENST00000680243.1:c.*1229T>G ENSP00000505911.1:n.*1229T>G
ENST00000680296.1:c.876T>G
ENST00000680332.1:n.533T>G
ENST00000680746.1:c.1327T>G ENSP00000505030.1:p.Phe443Val
ENST00000680751.1:n.855T>G
ENST00000680891.1:c.*1242T>G ENSP00000505167.1:n.*1242T>G
ENST00000680975.1:n.835T>G
ENST00000681087.1:n.895T>G
ENST00000681306.1:c.1450T>G ENSP00000506072.1:p.Phe484Val
ENST00000681618.1:c.1327T>G ENSP00000505773.1:p.Phe443Val
ENST00000681644.1:c.*1122T>G ENSP00000505180.1:n.*1122T>G
ENST00000681806.1:c.1450T>G ENSP00000505282.1:p.Phe484Val
ENST00000681942.1:c.998T>G
ENST00000382099.2:c.1450T>G ENSP00000371531.2:p.Phe484Val
ENST00000382100.7:c.1450T>G ENSP00000371532.2:p.Phe484Val
NM_001018056.1:c.1450T>G NP_001018066.1:p.Phe484Val
NM_003383.3:c.1450T>G NP_003374.3:p.Phe484Val
XM_011518029.1:c.1327T>G XP_011516331.1:p.Phe443Val
NM_001018056.2:c.1450T>G NP_001018066.1:p.Phe484Val
NM_001322225.1:c.1327T>G NP_001309154.1:p.Phe443Val
NM_001322226.1:c.1327T>G NP_001309155.1:p.Phe443Val
NM_003383.4:c.1450T>G NP_003374.3:p.Phe484Val
XR_001746373.2:n.1854T>G
XR_002956805.1:n.1854T>G
NM_003383.5:c.1450T>G MANE Select NP_003374.3:p.Phe484Val
NM_001018056.3:c.1450T>G NP_001018066.1:p.Phe484Val
NM_001322225.2:c.1327T>G NP_001309154.1:p.Phe443Val
NM_001322226.2:c.1327T>G NP_001309155.1:p.Phe443Val