Canonical Allele Identifier: CA4964554

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 915242
• ClinVar RCV Id: RCV001169798
• dbSNP Id: rs768045623
• ExAC: 9:2643180 G / A
• gnomAD v2: 9-2643180-G-A
• gnomAD v3: 9-2643180-G-A
• gnomAD v4: 9-2643180-G-A
• COSMIC: COSM5063861
• MyVariant Identifiers: chr9:g.2643180G>A (hg19) ; chr9:g.2643180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643180G>A , CM000671.2:g.2643180G>A	GRCh38
NC_000009.11:g.2643180G>A , CM000671.1:g.2643180G>A	GRCh37
NC_000009.10:g.2633180G>A	NCBI36
NG_012741.1:g.26388G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.21G>A
ENST00000382100.8:c.469G>A MANE Select	ENSP00000371532.2:p.Asp157Asn
ENST00000679851.1:n.454G>A
ENST00000680021.1:n.669G>A
ENST00000680043.1:c.21G>A
ENST00000680219.1:c.21G>A
ENST00000680243.1:c.*248G>A	ENSP00000505911.1:n.*248G>A
ENST00000680296.1:c.21G>A
ENST00000680746.1:c.346G>A	ENSP00000505030.1:p.Asp116Asn
ENST00000680891.1:c.*261G>A	ENSP00000505167.1:n.*261G>A
ENST00000681306.1:c.469G>A	ENSP00000506072.1:p.Asp157Asn
ENST00000681618.1:c.346G>A	ENSP00000505773.1:p.Asp116Asn
ENST00000681644.1:c.*141G>A	ENSP00000505180.1:n.*141G>A
ENST00000681806.1:c.469G>A	ENSP00000505282.1:p.Asp157Asn
ENST00000681942.1:c.21G>A
ENST00000382096.5:c.346G>A	ENSP00000371528.1:p.Asp116Asn
ENST00000382099.2:c.469G>A	ENSP00000371531.2:p.Asp157Asn
ENST00000382100.7:c.469G>A	ENSP00000371532.2:p.Asp157Asn
NM_001018056.1:c.469G>A	NP_001018066.1:p.Asp157Asn
NM_003383.3:c.469G>A	NP_003374.3:p.Asp157Asn
XM_011518029.1:c.346G>A	XP_011516331.1:p.Asp116Asn
NM_001018056.2:c.469G>A	NP_001018066.1:p.Asp157Asn
NM_001322225.1:c.346G>A	NP_001309154.1:p.Asp116Asn
NM_001322226.1:c.346G>A	NP_001309155.1:p.Asp116Asn
NM_003383.4:c.469G>A	NP_003374.3:p.Asp157Asn
XR_001746373.2:n.873G>A
XR_002956805.1:n.873G>A
NM_003383.5:c.469G>A MANE Select	NP_003374.3:p.Asp157Asn
NM_001018056.3:c.469G>A	NP_001018066.1:p.Asp157Asn
NM_001322225.2:c.346G>A	NP_001309154.1:p.Asp116Asn
NM_001322226.2:c.346G>A	NP_001309155.1:p.Asp116Asn