Canonical Allele Identifier: CA4964697

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 373721
• ClinVar RCV Id: RCV000414575 ; RCV000902106
• dbSNP Id: rs116306908
• ExAC: 9:2643875 A / G
• gnomAD v2: 9-2643875-A-G
• gnomAD v3: 9-2643875-A-G
• gnomAD v4: 9-2643875-A-G
• MyVariant Identifiers: chr9:g.2643875A>G (hg19) ; chr9:g.2643875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643875A>G , CM000671.2:g.2643875A>G	GRCh38
NC_000009.11:g.2643875A>G , CM000671.1:g.2643875A>G	GRCh37
NC_000009.10:g.2633875A>G	NCBI36
NG_012741.1:g.27083A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.534A>G
ENST00000382100.8:c.982A>G MANE Select	ENSP00000371532.2:p.Ser328Gly
ENST00000679851.1:n.1063A>G
ENST00000680021.1:n.1182A>G
ENST00000680043.1:c.534A>G
ENST00000680150.1:n.162A>G
ENST00000680219.1:c.534A>G
ENST00000680243.1:c.*761A>G	ENSP00000505911.1:n.*761A>G
ENST00000680296.1:c.534A>G
ENST00000680746.1:c.859A>G	ENSP00000505030.1:p.Ser287Gly
ENST00000680891.1:c.*774A>G	ENSP00000505167.1:n.*774A>G
ENST00000681306.1:c.982A>G	ENSP00000506072.1:p.Ser328Gly
ENST00000681618.1:c.859A>G	ENSP00000505773.1:p.Ser287Gly
ENST00000681644.1:c.*654A>G	ENSP00000505180.1:n.*654A>G
ENST00000681806.1:c.982A>G	ENSP00000505282.1:p.Ser328Gly
ENST00000681942.1:c.534A>G
ENST00000382099.2:c.982A>G	ENSP00000371531.2:p.Ser328Gly
ENST00000382100.7:c.982A>G	ENSP00000371532.2:p.Ser328Gly
NM_001018056.1:c.982A>G	NP_001018066.1:p.Ser328Gly
NM_003383.3:c.982A>G	NP_003374.3:p.Ser328Gly
XM_011518029.1:c.859A>G	XP_011516331.1:p.Ser287Gly
NM_001018056.2:c.982A>G	NP_001018066.1:p.Ser328Gly
NM_001322225.1:c.859A>G	NP_001309154.1:p.Ser287Gly
NM_001322226.1:c.859A>G	NP_001309155.1:p.Ser287Gly
NM_003383.4:c.982A>G	NP_003374.3:p.Ser328Gly
XR_001746373.2:n.1386A>G
XR_002956805.1:n.1386A>G
NM_003383.5:c.982A>G MANE Select	NP_003374.3:p.Ser328Gly
NM_001018056.3:c.982A>G	NP_001018066.1:p.Ser328Gly
NM_001322225.2:c.859A>G	NP_001309154.1:p.Ser287Gly
NM_001322226.2:c.859A>G	NP_001309155.1:p.Ser287Gly