Canonical Allele Identifier: CA372794564

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2645678-G-A
• MyVariant Identifiers: chr9:g.2645678G>A (hg19) ; chr9:g.2645678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645678G>A , CM000671.2:g.2645678G>A	GRCh38
NC_000009.11:g.2645678G>A , CM000671.1:g.2645678G>A	GRCh37
NC_000009.10:g.2635678G>A	NCBI36
NG_012741.1:g.28886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.975G>A
ENST00000382100.8:c.1417G>A MANE Select	ENSP00000371532.2:p.Ala473Thr
ENST00000478776.2:n.862G>A
ENST00000679718.1:n.653G>A
ENST00000679750.1:n.833G>A
ENST00000679851.1:n.1601G>A
ENST00000680021.1:n.1617G>A
ENST00000680043.1:c.969G>A
ENST00000680219.1:c.984G>A
ENST00000680243.1:c.*1196G>A	ENSP00000505911.1:n.*1196G>A
ENST00000680296.1:c.843G>A
ENST00000680332.1:n.500G>A
ENST00000680746.1:c.1294G>A	ENSP00000505030.1:p.Ala432Thr
ENST00000680751.1:n.822G>A
ENST00000680891.1:c.*1209G>A	ENSP00000505167.1:n.*1209G>A
ENST00000680975.1:n.802G>A
ENST00000681087.1:n.862G>A
ENST00000681306.1:c.1417G>A	ENSP00000506072.1:p.Ala473Thr
ENST00000681618.1:c.1294G>A	ENSP00000505773.1:p.Ala432Thr
ENST00000681644.1:c.*1089G>A	ENSP00000505180.1:n.*1089G>A
ENST00000681806.1:c.1417G>A	ENSP00000505282.1:p.Ala473Thr
ENST00000681942.1:c.965G>A
ENST00000382099.2:c.1417G>A	ENSP00000371531.2:p.Ala473Thr
ENST00000382100.7:c.1417G>A	ENSP00000371532.2:p.Ala473Thr
NM_001018056.1:c.1417G>A	NP_001018066.1:p.Ala473Thr
NM_003383.3:c.1417G>A	NP_003374.3:p.Ala473Thr
XM_011518029.1:c.1294G>A	XP_011516331.1:p.Ala432Thr
NM_001018056.2:c.1417G>A	NP_001018066.1:p.Ala473Thr
NM_001322225.1:c.1294G>A	NP_001309154.1:p.Ala432Thr
NM_001322226.1:c.1294G>A	NP_001309155.1:p.Ala432Thr
NM_003383.4:c.1417G>A	NP_003374.3:p.Ala473Thr
XR_001746373.2:n.1821G>A
XR_002956805.1:n.1821G>A
NM_003383.5:c.1417G>A MANE Select	NP_003374.3:p.Ala473Thr
NM_001018056.3:c.1417G>A	NP_001018066.1:p.Ala473Thr
NM_001322225.2:c.1294G>A	NP_001309154.1:p.Ala432Thr
NM_001322226.2:c.1294G>A	NP_001309155.1:p.Ala432Thr