Canonical Allele Identifier: CA4964939

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 2531429
• ClinVar RCV Id: RCV003275853
• dbSNP Id: rs147695876
• ExAC: 9:2647580 G / A
• gnomAD v2: 9-2647580-G-A
• gnomAD v3: 9-2647580-G-A
• gnomAD v4: 9-2647580-G-A
• COSMIC: COSM1232286
• MyVariant Identifiers: chr9:g.2647580G>A (hg19) ; chr9:g.2647580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647580G>A , CM000671.2:g.2647580G>A	GRCh38
NC_000009.11:g.2647580G>A , CM000671.1:g.2647580G>A	GRCh37
NC_000009.10:g.2637580G>A	NCBI36
NG_012741.1:g.30788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1368G>A
ENST00000382100.8:c.1810G>A MANE Select	ENSP00000371532.2:p.Gly604Arg
ENST00000478776.2:n.1255G>A
ENST00000679488.1:n.300G>A
ENST00000679718.1:n.1046G>A
ENST00000679750.1:n.1226G>A
ENST00000679851.1:n.1994G>A
ENST00000680021.1:n.2010G>A
ENST00000680043.1:c.1362G>A
ENST00000680219.1:c.1377G>A
ENST00000680243.1:c.*1589G>A	ENSP00000505911.1:n.*1589G>A
ENST00000680296.1:c.1236G>A
ENST00000680332.1:n.828G>A
ENST00000680746.1:c.1687G>A	ENSP00000505030.1:p.Gly563Arg
ENST00000680751.1:n.1215G>A
ENST00000680891.1:c.*1602G>A	ENSP00000505167.1:n.*1602G>A
ENST00000680975.1:n.1195G>A
ENST00000681087.1:n.1255G>A
ENST00000681306.1:c.1810G>A	ENSP00000506072.1:p.Gly604Arg
ENST00000681618.1:c.1687G>A	ENSP00000505773.1:p.Gly563Arg
ENST00000681644.1:c.*1482G>A	ENSP00000505180.1:n.*1482G>A
ENST00000681806.1:c.*248G>A	ENSP00000505282.1:n.*248G>A
ENST00000681942.1:c.1293G>A
ENST00000382099.2:c.1810G>A	ENSP00000371531.2:p.Gly604Arg
ENST00000382100.7:c.1810G>A	ENSP00000371532.2:p.Gly604Arg
ENST00000478776.1:n.322G>A
NM_001018056.1:c.1810G>A	NP_001018066.1:p.Gly604Arg
NM_003383.3:c.1810G>A	NP_003374.3:p.Gly604Arg
XM_011518029.1:c.1687G>A	XP_011516331.1:p.Gly563Arg
NM_001018056.2:c.1810G>A	NP_001018066.1:p.Gly604Arg
NM_001322225.1:c.1687G>A	NP_001309154.1:p.Gly563Arg
NM_001322226.1:c.1687G>A	NP_001309155.1:p.Gly563Arg
NM_003383.4:c.1810G>A	NP_003374.3:p.Gly604Arg
XR_001746373.2:n.2149G>A
XR_002956805.1:n.2149G>A
NM_003383.5:c.1810G>A MANE Select	NP_003374.3:p.Gly604Arg
NM_001018056.3:c.1810G>A	NP_001018066.1:p.Gly604Arg
NM_001322225.2:c.1687G>A	NP_001309154.1:p.Gly563Arg
NM_001322226.2:c.1687G>A	NP_001309155.1:p.Gly563Arg