Canonical Allele Identifier: CA4964556

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 2230016
• ClinVar RCV Id: RCV002697875
• dbSNP Id: rs138649440
• ExAC: 9:2643182 C / A
• gnomAD v2: 9-2643182-C-A
• gnomAD v3: 9-2643182-C-A
• gnomAD v4: 9-2643182-C-A
• MyVariant Identifiers: chr9:g.2643182C>A (hg19) ; chr9:g.2643182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643182C>A , CM000671.2:g.2643182C>A	GRCh38
NC_000009.11:g.2643182C>A , CM000671.1:g.2643182C>A	GRCh37
NC_000009.10:g.2633182C>A	NCBI36
NG_012741.1:g.26390C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.23C>A
ENST00000382100.8:c.471C>A MANE Select	ENSP00000371532.2:p.Asp157Glu
ENST00000679851.1:n.456C>A
ENST00000680021.1:n.671C>A
ENST00000680043.1:c.23C>A
ENST00000680219.1:c.23C>A
ENST00000680243.1:c.*250C>A	ENSP00000505911.1:n.*250C>A
ENST00000680296.1:c.23C>A
ENST00000680746.1:c.348C>A	ENSP00000505030.1:p.Asp116Glu
ENST00000680891.1:c.*263C>A	ENSP00000505167.1:n.*263C>A
ENST00000681306.1:c.471C>A	ENSP00000506072.1:p.Asp157Glu
ENST00000681618.1:c.348C>A	ENSP00000505773.1:p.Asp116Glu
ENST00000681644.1:c.*143C>A	ENSP00000505180.1:n.*143C>A
ENST00000681806.1:c.471C>A	ENSP00000505282.1:p.Asp157Glu
ENST00000681942.1:c.23C>A
ENST00000382096.5:c.348C>A	ENSP00000371528.1:p.Asp116Glu
ENST00000382099.2:c.471C>A	ENSP00000371531.2:p.Asp157Glu
ENST00000382100.7:c.471C>A	ENSP00000371532.2:p.Asp157Glu
NM_001018056.1:c.471C>A	NP_001018066.1:p.Asp157Glu
NM_003383.3:c.471C>A	NP_003374.3:p.Asp157Glu
XM_011518029.1:c.348C>A	XP_011516331.1:p.Asp116Glu
NM_001018056.2:c.471C>A	NP_001018066.1:p.Asp157Glu
NM_001322225.1:c.348C>A	NP_001309154.1:p.Asp116Glu
NM_001322226.1:c.348C>A	NP_001309155.1:p.Asp116Glu
NM_003383.4:c.471C>A	NP_003374.3:p.Asp157Glu
XR_001746373.2:n.875C>A
XR_002956805.1:n.875C>A
NM_003383.5:c.471C>A MANE Select	NP_003374.3:p.Asp157Glu
NM_001018056.3:c.471C>A	NP_001018066.1:p.Asp157Glu
NM_001322225.2:c.348C>A	NP_001309154.1:p.Asp116Glu
NM_001322226.2:c.348C>A	NP_001309155.1:p.Asp116Glu