Canonical Allele Identifier: CA4964813

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 437230
• ClinVar RCV Id: RCV000502607 ; RCV000917782 ; RCV001168016
• dbSNP Id: rs137946976
• ExAC: 9:2645604 G / A
• gnomAD v2: 9-2645604-G-A
• gnomAD v3: 9-2645604-G-A
• gnomAD v4: 9-2645604-G-A
• COSMIC: COSM1232284
• MyVariant Identifiers: chr9:g.2645604G>A (hg19) ; chr9:g.2645604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645604G>A , CM000671.2:g.2645604G>A	GRCh38
NC_000009.11:g.2645604G>A , CM000671.1:g.2645604G>A	GRCh37
NC_000009.10:g.2635604G>A	NCBI36
NG_012741.1:g.28812G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.901G>A
ENST00000382100.8:c.1343G>A MANE Select	ENSP00000371532.2:p.Arg448Gln
ENST00000478776.2:n.788G>A
ENST00000679718.1:n.579G>A
ENST00000679750.1:n.759G>A
ENST00000679851.1:n.1527G>A
ENST00000680021.1:n.1543G>A
ENST00000680043.1:c.895G>A
ENST00000680219.1:c.910G>A
ENST00000680243.1:c.*1122G>A	ENSP00000505911.1:n.*1122G>A
ENST00000680296.1:c.769G>A
ENST00000680332.1:n.426G>A
ENST00000680746.1:c.1220G>A	ENSP00000505030.1:p.Arg407Gln
ENST00000680751.1:n.748G>A
ENST00000680891.1:c.*1135G>A	ENSP00000505167.1:n.*1135G>A
ENST00000680975.1:n.728G>A
ENST00000681087.1:n.788G>A
ENST00000681306.1:c.1343G>A	ENSP00000506072.1:p.Arg448Gln
ENST00000681618.1:c.1220G>A	ENSP00000505773.1:p.Arg407Gln
ENST00000681644.1:c.*1015G>A	ENSP00000505180.1:n.*1015G>A
ENST00000681806.1:c.1343G>A	ENSP00000505282.1:p.Arg448Gln
ENST00000681942.1:c.891G>A
ENST00000382099.2:c.1343G>A	ENSP00000371531.2:p.Arg448Gln
ENST00000382100.7:c.1343G>A	ENSP00000371532.2:p.Arg448Gln
NM_001018056.1:c.1343G>A	NP_001018066.1:p.Arg448Gln
NM_003383.3:c.1343G>A	NP_003374.3:p.Arg448Gln
XM_011518029.1:c.1220G>A	XP_011516331.1:p.Arg407Gln
NM_001018056.2:c.1343G>A	NP_001018066.1:p.Arg448Gln
NM_001322225.1:c.1220G>A	NP_001309154.1:p.Arg407Gln
NM_001322226.1:c.1220G>A	NP_001309155.1:p.Arg407Gln
NM_003383.4:c.1343G>A	NP_003374.3:p.Arg448Gln
XR_001746373.2:n.1747G>A
XR_002956805.1:n.1747G>A
NM_003383.5:c.1343G>A MANE Select	NP_003374.3:p.Arg448Gln
NM_001018056.3:c.1343G>A	NP_001018066.1:p.Arg448Gln
NM_001322225.2:c.1220G>A	NP_001309154.1:p.Arg407Gln
NM_001322226.2:c.1220G>A	NP_001309155.1:p.Arg407Gln