Canonical Allele Identifier: CA372794632

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2645709T>G (hg19) ; chr9:g.2645709T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645709T>G , CM000671.2:g.2645709T>G	GRCh38
NC_000009.11:g.2645709T>G , CM000671.1:g.2645709T>G	GRCh37
NC_000009.10:g.2635709T>G	NCBI36
NG_012741.1:g.28917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1006T>G
ENST00000382100.8:c.1448T>G MANE Select	ENSP00000371532.2:p.Leu483Arg
ENST00000478776.2:n.893T>G
ENST00000679718.1:n.684T>G
ENST00000679750.1:n.864T>G
ENST00000679851.1:n.1632T>G
ENST00000680021.1:n.1648T>G
ENST00000680043.1:c.1000T>G
ENST00000680219.1:c.1015T>G
ENST00000680243.1:c.*1227T>G	ENSP00000505911.1:n.*1227T>G
ENST00000680296.1:c.874T>G
ENST00000680332.1:n.531T>G
ENST00000680746.1:c.1325T>G	ENSP00000505030.1:p.Leu442Arg
ENST00000680751.1:n.853T>G
ENST00000680891.1:c.*1240T>G	ENSP00000505167.1:n.*1240T>G
ENST00000680975.1:n.833T>G
ENST00000681087.1:n.893T>G
ENST00000681306.1:c.1448T>G	ENSP00000506072.1:p.Leu483Arg
ENST00000681618.1:c.1325T>G	ENSP00000505773.1:p.Leu442Arg
ENST00000681644.1:c.*1120T>G	ENSP00000505180.1:n.*1120T>G
ENST00000681806.1:c.1448T>G	ENSP00000505282.1:p.Leu483Arg
ENST00000681942.1:c.996T>G
ENST00000382099.2:c.1448T>G	ENSP00000371531.2:p.Leu483Arg
ENST00000382100.7:c.1448T>G	ENSP00000371532.2:p.Leu483Arg
NM_001018056.1:c.1448T>G	NP_001018066.1:p.Leu483Arg
NM_003383.3:c.1448T>G	NP_003374.3:p.Leu483Arg
XM_011518029.1:c.1325T>G	XP_011516331.1:p.Leu442Arg
NM_001018056.2:c.1448T>G	NP_001018066.1:p.Leu483Arg
NM_001322225.1:c.1325T>G	NP_001309154.1:p.Leu442Arg
NM_001322226.1:c.1325T>G	NP_001309155.1:p.Leu442Arg
NM_003383.4:c.1448T>G	NP_003374.3:p.Leu483Arg
XR_001746373.2:n.1852T>G
XR_002956805.1:n.1852T>G
NM_003383.5:c.1448T>G MANE Select	NP_003374.3:p.Leu483Arg
NM_001018056.3:c.1448T>G	NP_001018066.1:p.Leu483Arg
NM_001322225.2:c.1325T>G	NP_001309154.1:p.Leu442Arg
NM_001322226.2:c.1325T>G	NP_001309155.1:p.Leu442Arg