Canonical Allele Identifier: CA372794623

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2645705-A-G
• MyVariant Identifiers: chr9:g.2645705A>G (hg19) ; chr9:g.2645705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645705A>G , CM000671.2:g.2645705A>G	GRCh38
NC_000009.11:g.2645705A>G , CM000671.1:g.2645705A>G	GRCh37
NC_000009.10:g.2635705A>G	NCBI36
NG_012741.1:g.28913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1002A>G
ENST00000382100.8:c.1444A>G MANE Select	ENSP00000371532.2:p.Lys482Glu
ENST00000478776.2:n.889A>G
ENST00000679718.1:n.680A>G
ENST00000679750.1:n.860A>G
ENST00000679851.1:n.1628A>G
ENST00000680021.1:n.1644A>G
ENST00000680043.1:c.996A>G
ENST00000680219.1:c.1011A>G
ENST00000680243.1:c.*1223A>G	ENSP00000505911.1:n.*1223A>G
ENST00000680296.1:c.870A>G
ENST00000680332.1:n.527A>G
ENST00000680746.1:c.1321A>G	ENSP00000505030.1:p.Lys441Glu
ENST00000680751.1:n.849A>G
ENST00000680891.1:c.*1236A>G	ENSP00000505167.1:n.*1236A>G
ENST00000680975.1:n.829A>G
ENST00000681087.1:n.889A>G
ENST00000681306.1:c.1444A>G	ENSP00000506072.1:p.Lys482Glu
ENST00000681618.1:c.1321A>G	ENSP00000505773.1:p.Lys441Glu
ENST00000681644.1:c.*1116A>G	ENSP00000505180.1:n.*1116A>G
ENST00000681806.1:c.1444A>G	ENSP00000505282.1:p.Lys482Glu
ENST00000681942.1:c.992A>G
ENST00000382099.2:c.1444A>G	ENSP00000371531.2:p.Lys482Glu
ENST00000382100.7:c.1444A>G	ENSP00000371532.2:p.Lys482Glu
NM_001018056.1:c.1444A>G	NP_001018066.1:p.Lys482Glu
NM_003383.3:c.1444A>G	NP_003374.3:p.Lys482Glu
XM_011518029.1:c.1321A>G	XP_011516331.1:p.Lys441Glu
NM_001018056.2:c.1444A>G	NP_001018066.1:p.Lys482Glu
NM_001322225.1:c.1321A>G	NP_001309154.1:p.Lys441Glu
NM_001322226.1:c.1321A>G	NP_001309155.1:p.Lys441Glu
NM_003383.4:c.1444A>G	NP_003374.3:p.Lys482Glu
XR_001746373.2:n.1848A>G
XR_002956805.1:n.1848A>G
NM_003383.5:c.1444A>G MANE Select	NP_003374.3:p.Lys482Glu
NM_001018056.3:c.1444A>G	NP_001018066.1:p.Lys482Glu
NM_001322225.2:c.1321A>G	NP_001309154.1:p.Lys441Glu
NM_001322226.2:c.1321A>G	NP_001309155.1:p.Lys441Glu