Canonical Allele Identifier: CA372799864

Gene: VLDLR

Linked Data

• dbSNP Id: rs397514750
• gnomAD v4: 9-2650382-G-A
• MyVariant Identifiers: chr9:g.2650382G>A (hg19) ; chr9:g.2650382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2650382G>A , CM000671.2:g.2650382G>A	GRCh38
NC_000009.11:g.2650382G>A , CM000671.1:g.2650382G>A	GRCh37
NC_000009.10:g.2640382G>A	NCBI36
NG_012741.1:g.33590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1675G>A
ENST00000382100.8:c.2117G>A MANE Select	ENSP00000371532.2:p.Cys706Tyr
ENST00000679488.1:n.1543G>A
ENST00000679718.1:n.1353G>A
ENST00000679750.1:n.1533G>A
ENST00000679780.1:n.893G>A
ENST00000679851.1:n.2916G>A
ENST00000680021.1:n.2317G>A
ENST00000680043.1:c.1669G>A
ENST00000680219.1:c.1684G>A
ENST00000680243.1:c.*1756G>A	ENSP00000505911.1:n.*1756G>A
ENST00000680296.1:c.1543G>A
ENST00000680332.1:n.1750G>A
ENST00000680440.1:n.257G>A
ENST00000680746.1:c.1994G>A	ENSP00000505030.1:p.Cys665Tyr
ENST00000680751.1:n.1522G>A
ENST00000680891.1:c.*1909G>A	ENSP00000505167.1:n.*1909G>A
ENST00000680975.1:n.1502G>A
ENST00000681087.1:n.1422G>A
ENST00000681306.1:c.2117G>A	ENSP00000506072.1:p.Cys706Tyr
ENST00000681486.1:n.217G>A
ENST00000681618.1:c.1994G>A	ENSP00000505773.1:p.Cys665Tyr
ENST00000681644.1:c.*1789G>A	ENSP00000505180.1:n.*1789G>A
ENST00000681806.1:c.*555G>A	ENSP00000505282.1:n.*555G>A
ENST00000681942.1:c.1600G>A
ENST00000382099.2:c.2117G>A	ENSP00000371531.2:p.Cys706Tyr
ENST00000382100.7:c.2117G>A	ENSP00000371532.2:p.Cys706Tyr
NM_001018056.1:c.2117G>A	NP_001018066.1:p.Cys706Tyr
NM_003383.3:c.2117G>A	NP_003374.3:p.Cys706Tyr
XM_011518029.1:c.1994G>A	XP_011516331.1:p.Cys665Tyr
NM_001018056.2:c.2117G>A	NP_001018066.1:p.Cys706Tyr
NM_001322225.1:c.1994G>A	NP_001309154.1:p.Cys665Tyr
NM_001322226.1:c.1994G>A	NP_001309155.1:p.Cys665Tyr
NM_003383.4:c.2117G>A	NP_003374.3:p.Cys706Tyr
XR_001746373.2:n.2456G>A
XR_002956805.1:n.2456G>A
NM_003383.5:c.2117G>A MANE Select	NP_003374.3:p.Cys706Tyr
NM_001018056.3:c.2117G>A	NP_001018066.1:p.Cys706Tyr
NM_001322225.2:c.1994G>A	NP_001309154.1:p.Cys665Tyr
NM_001322226.2:c.1994G>A	NP_001309155.1:p.Cys665Tyr