Canonical Allele Identifier: CA187953583

Gene: VLDLR

Linked Data

• dbSNP Id: rs80338905
• gnomAD v2: 9-2645603-C-A
• gnomAD v3: 9-2645603-C-A
• gnomAD v4: 9-2645603-C-A
• MyVariant Identifiers: chr9:g.2645603C>A (hg19) ; chr9:g.2645603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645603C>A , CM000671.2:g.2645603C>A	GRCh38
NC_000009.11:g.2645603C>A , CM000671.1:g.2645603C>A	GRCh37
NC_000009.10:g.2635603C>A	NCBI36
NG_012741.1:g.28811C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.900C>A
ENST00000382100.8:c.1342C>A MANE Select	ENSP00000371532.2:p.Arg448=
ENST00000478776.2:n.787C>A
ENST00000679718.1:n.578C>A
ENST00000679750.1:n.758C>A
ENST00000679851.1:n.1526C>A
ENST00000680021.1:n.1542C>A
ENST00000680043.1:c.894C>A
ENST00000680219.1:c.909C>A
ENST00000680243.1:c.*1121C>A	ENSP00000505911.1:n.*1121C>A
ENST00000680296.1:c.768C>A
ENST00000680332.1:n.425C>A
ENST00000680746.1:c.1219C>A	ENSP00000505030.1:p.Arg407=
ENST00000680751.1:n.747C>A
ENST00000680891.1:c.*1134C>A	ENSP00000505167.1:n.*1134C>A
ENST00000680975.1:n.727C>A
ENST00000681087.1:n.787C>A
ENST00000681306.1:c.1342C>A	ENSP00000506072.1:p.Arg448=
ENST00000681618.1:c.1219C>A	ENSP00000505773.1:p.Arg407=
ENST00000681644.1:c.*1014C>A	ENSP00000505180.1:n.*1014C>A
ENST00000681806.1:c.1342C>A	ENSP00000505282.1:p.Arg448=
ENST00000681942.1:c.890C>A
ENST00000382099.2:c.1342C>A	ENSP00000371531.2:p.Arg448=
ENST00000382100.7:c.1342C>A	ENSP00000371532.2:p.Arg448=
NM_001018056.1:c.1342C>A	NP_001018066.1:p.Arg448=
NM_003383.3:c.1342C>A	NP_003374.3:p.Arg448=
XM_011518029.1:c.1219C>A	XP_011516331.1:p.Arg407=
NM_001018056.2:c.1342C>A	NP_001018066.1:p.Arg448=
NM_001322225.1:c.1219C>A	NP_001309154.1:p.Arg407=
NM_001322226.1:c.1219C>A	NP_001309155.1:p.Arg407=
NM_003383.4:c.1342C>A	NP_003374.3:p.Arg448=
XR_001746373.2:n.1746C>A
XR_002956805.1:n.1746C>A
NM_003383.5:c.1342C>A MANE Select	NP_003374.3:p.Arg448=
NM_001018056.3:c.1342C>A	NP_001018066.1:p.Arg448=
NM_001322225.2:c.1219C>A	NP_001309154.1:p.Arg407=
NM_001322226.2:c.1219C>A	NP_001309155.1:p.Arg407=