Canonical Allele Identifier: CA372797112
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2647581-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2647581G>C , CM000671.2:g.2647581G>C GRCh38
NC_000009.11:g.2647581G>C , CM000671.1:g.2647581G>C GRCh37
NC_000009.10:g.2637581G>C NCBI36
NG_012741.1:g.30789G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1369G>C
ENST00000382100.8:c.1811G>C MANE Select ENSP00000371532.2:p.Gly604Ala
ENST00000478776.2:n.1256G>C
ENST00000679488.1:n.301G>C
ENST00000679718.1:n.1047G>C
ENST00000679750.1:n.1227G>C
ENST00000679851.1:n.1995G>C
ENST00000680021.1:n.2011G>C
ENST00000680043.1:c.1363G>C
ENST00000680219.1:c.1378G>C
ENST00000680243.1:c.*1590G>C ENSP00000505911.1:n.*1590G>C
ENST00000680296.1:c.1237G>C
ENST00000680332.1:n.829G>C
ENST00000680746.1:c.1688G>C ENSP00000505030.1:p.Gly563Ala
ENST00000680751.1:n.1216G>C
ENST00000680891.1:c.*1603G>C ENSP00000505167.1:n.*1603G>C
ENST00000680975.1:n.1196G>C
ENST00000681087.1:n.1256G>C
ENST00000681306.1:c.1811G>C ENSP00000506072.1:p.Gly604Ala
ENST00000681618.1:c.1688G>C ENSP00000505773.1:p.Gly563Ala
ENST00000681644.1:c.*1483G>C ENSP00000505180.1:n.*1483G>C
ENST00000681806.1:c.*249G>C ENSP00000505282.1:n.*249G>C
ENST00000681942.1:c.1294G>C
ENST00000382099.2:c.1811G>C ENSP00000371531.2:p.Gly604Ala
ENST00000382100.7:c.1811G>C ENSP00000371532.2:p.Gly604Ala
ENST00000478776.1:n.323G>C
NM_001018056.1:c.1811G>C NP_001018066.1:p.Gly604Ala
NM_003383.3:c.1811G>C NP_003374.3:p.Gly604Ala
XM_011518029.1:c.1688G>C XP_011516331.1:p.Gly563Ala
NM_001018056.2:c.1811G>C NP_001018066.1:p.Gly604Ala
NM_001322225.1:c.1688G>C NP_001309154.1:p.Gly563Ala
NM_001322226.1:c.1688G>C NP_001309155.1:p.Gly563Ala
NM_003383.4:c.1811G>C NP_003374.3:p.Gly604Ala
XR_001746373.2:n.2150G>C
XR_002956805.1:n.2150G>C
NM_003383.5:c.1811G>C MANE Select NP_003374.3:p.Gly604Ala
NM_001018056.3:c.1811G>C NP_001018066.1:p.Gly604Ala
NM_001322225.2:c.1688G>C NP_001309154.1:p.Gly563Ala
NM_001322226.2:c.1688G>C NP_001309155.1:p.Gly563Ala