Canonical Allele Identifier: CA372794575

Gene: VLDLR

Linked Data

• dbSNP Id: rs1818038898
• gnomAD v4: 9-2645684-G-A
• MyVariant Identifiers: chr9:g.2645684G>A (hg19) ; chr9:g.2645684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645684G>A , CM000671.2:g.2645684G>A	GRCh38
NC_000009.11:g.2645684G>A , CM000671.1:g.2645684G>A	GRCh37
NC_000009.10:g.2635684G>A	NCBI36
NG_012741.1:g.28892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.981G>A
ENST00000382100.8:c.1423G>A MANE Select	ENSP00000371532.2:p.Asp475Asn
ENST00000478776.2:n.868G>A
ENST00000679718.1:n.659G>A
ENST00000679750.1:n.839G>A
ENST00000679851.1:n.1607G>A
ENST00000680021.1:n.1623G>A
ENST00000680043.1:c.975G>A
ENST00000680219.1:c.990G>A
ENST00000680243.1:c.*1202G>A	ENSP00000505911.1:n.*1202G>A
ENST00000680296.1:c.849G>A
ENST00000680332.1:n.506G>A
ENST00000680746.1:c.1300G>A	ENSP00000505030.1:p.Asp434Asn
ENST00000680751.1:n.828G>A
ENST00000680891.1:c.*1215G>A	ENSP00000505167.1:n.*1215G>A
ENST00000680975.1:n.808G>A
ENST00000681087.1:n.868G>A
ENST00000681306.1:c.1423G>A	ENSP00000506072.1:p.Asp475Asn
ENST00000681618.1:c.1300G>A	ENSP00000505773.1:p.Asp434Asn
ENST00000681644.1:c.*1095G>A	ENSP00000505180.1:n.*1095G>A
ENST00000681806.1:c.1423G>A	ENSP00000505282.1:p.Asp475Asn
ENST00000681942.1:c.971G>A
ENST00000382099.2:c.1423G>A	ENSP00000371531.2:p.Asp475Asn
ENST00000382100.7:c.1423G>A	ENSP00000371532.2:p.Asp475Asn
NM_001018056.1:c.1423G>A	NP_001018066.1:p.Asp475Asn
NM_003383.3:c.1423G>A	NP_003374.3:p.Asp475Asn
XM_011518029.1:c.1300G>A	XP_011516331.1:p.Asp434Asn
NM_001018056.2:c.1423G>A	NP_001018066.1:p.Asp475Asn
NM_001322225.1:c.1300G>A	NP_001309154.1:p.Asp434Asn
NM_001322226.1:c.1300G>A	NP_001309155.1:p.Asp434Asn
NM_003383.4:c.1423G>A	NP_003374.3:p.Asp475Asn
XR_001746373.2:n.1827G>A
XR_002956805.1:n.1827G>A
NM_003383.5:c.1423G>A MANE Select	NP_003374.3:p.Asp475Asn
NM_001018056.3:c.1423G>A	NP_001018066.1:p.Asp475Asn
NM_001322225.2:c.1300G>A	NP_001309154.1:p.Asp434Asn
NM_001322226.2:c.1300G>A	NP_001309155.1:p.Asp434Asn