Canonical Allele Identifier: CA372794690
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2645735-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645735G>C , CM000671.2:g.2645735G>C GRCh38
NC_000009.11:g.2645735G>C , CM000671.1:g.2645735G>C GRCh37
NC_000009.10:g.2635735G>C NCBI36
NG_012741.1:g.28943G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1032G>C
ENST00000382100.8:c.1474G>C MANE Select ENSP00000371532.2:p.Ala492Pro
ENST00000478776.2:n.919G>C
ENST00000679718.1:n.710G>C
ENST00000679750.1:n.890G>C
ENST00000679851.1:n.1658G>C
ENST00000680021.1:n.1674G>C
ENST00000680043.1:c.1026G>C
ENST00000680219.1:c.1041G>C
ENST00000680243.1:c.*1253G>C ENSP00000505911.1:n.*1253G>C
ENST00000680296.1:c.900G>C
ENST00000680332.1:n.557G>C
ENST00000680746.1:c.1351G>C ENSP00000505030.1:p.Ala451Pro
ENST00000680751.1:n.879G>C
ENST00000680891.1:c.*1266G>C ENSP00000505167.1:n.*1266G>C
ENST00000680975.1:n.859G>C
ENST00000681087.1:n.919G>C
ENST00000681306.1:c.1474G>C ENSP00000506072.1:p.Ala492Pro
ENST00000681618.1:c.1351G>C ENSP00000505773.1:p.Ala451Pro
ENST00000681644.1:c.*1146G>C ENSP00000505180.1:n.*1146G>C
ENST00000681806.1:c.1474G>C ENSP00000505282.1:p.Ala492Pro
ENST00000681942.1:c.1022G>C
ENST00000382099.2:c.1474G>C ENSP00000371531.2:p.Ala492Pro
ENST00000382100.7:c.1474G>C ENSP00000371532.2:p.Ala492Pro
NM_001018056.1:c.1474G>C NP_001018066.1:p.Ala492Pro
NM_003383.3:c.1474G>C NP_003374.3:p.Ala492Pro
XM_011518029.1:c.1351G>C XP_011516331.1:p.Ala451Pro
NM_001018056.2:c.1474G>C NP_001018066.1:p.Ala492Pro
NM_001322225.1:c.1351G>C NP_001309154.1:p.Ala451Pro
NM_001322226.1:c.1351G>C NP_001309155.1:p.Ala451Pro
NM_003383.4:c.1474G>C NP_003374.3:p.Ala492Pro
XR_001746373.2:n.1878G>C
XR_002956805.1:n.1878G>C
NM_003383.5:c.1474G>C MANE Select NP_003374.3:p.Ala492Pro
NM_001018056.3:c.1474G>C NP_001018066.1:p.Ala492Pro
NM_001322225.2:c.1351G>C NP_001309154.1:p.Ala451Pro
NM_001322226.2:c.1351G>C NP_001309155.1:p.Ala451Pro