Canonical Allele Identifier: CA372795291

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2646442-T-A
• MyVariant Identifiers: chr9:g.2646442T>A (hg19) ; chr9:g.2646442T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2646442T>A , CM000671.2:g.2646442T>A	GRCh38
NC_000009.11:g.2646442T>A , CM000671.1:g.2646442T>A	GRCh37
NC_000009.10:g.2636442T>A	NCBI36
NG_012741.1:g.29650T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1151T>A
ENST00000382100.8:c.1593T>A MANE Select	ENSP00000371532.2:p.Asp531Glu
ENST00000478776.2:n.1038T>A
ENST00000679718.1:n.829T>A
ENST00000679750.1:n.1009T>A
ENST00000679851.1:n.1777T>A
ENST00000680021.1:n.1793T>A
ENST00000680043.1:c.1145T>A
ENST00000680219.1:c.1160T>A
ENST00000680243.1:c.*1372T>A	ENSP00000505911.1:n.*1372T>A
ENST00000680296.1:c.1019T>A
ENST00000680332.1:n.611T>A
ENST00000680746.1:c.1470T>A	ENSP00000505030.1:p.Asp490Glu
ENST00000680751.1:n.998T>A
ENST00000680891.1:c.*1385T>A	ENSP00000505167.1:n.*1385T>A
ENST00000680975.1:n.978T>A
ENST00000681087.1:n.1038T>A
ENST00000681306.1:c.1593T>A	ENSP00000506072.1:p.Asp531Glu
ENST00000681618.1:c.1470T>A	ENSP00000505773.1:p.Asp490Glu
ENST00000681644.1:c.*1265T>A	ENSP00000505180.1:n.*1265T>A
ENST00000681806.1:c.*31T>A	ENSP00000505282.1:n.*31T>A
ENST00000681942.1:c.1076T>A
ENST00000382099.2:c.1593T>A	ENSP00000371531.2:p.Asp531Glu
ENST00000382100.7:c.1593T>A	ENSP00000371532.2:p.Asp531Glu
ENST00000478776.1:n.105T>A
NM_001018056.1:c.1593T>A	NP_001018066.1:p.Asp531Glu
NM_003383.3:c.1593T>A	NP_003374.3:p.Asp531Glu
XM_011518029.1:c.1470T>A	XP_011516331.1:p.Asp490Glu
NM_001018056.2:c.1593T>A	NP_001018066.1:p.Asp531Glu
NM_001322225.1:c.1470T>A	NP_001309154.1:p.Asp490Glu
NM_001322226.1:c.1470T>A	NP_001309155.1:p.Asp490Glu
NM_003383.4:c.1593T>A	NP_003374.3:p.Asp531Glu
XR_001746373.2:n.1932T>A
XR_002956805.1:n.1932T>A
NM_003383.5:c.1593T>A MANE Select	NP_003374.3:p.Asp531Glu
NM_001018056.3:c.1593T>A	NP_001018066.1:p.Asp531Glu
NM_001322225.2:c.1470T>A	NP_001309154.1:p.Asp490Glu
NM_001322226.2:c.1470T>A	NP_001309155.1:p.Asp490Glu