Canonical Allele Identifier: CA463713362

Gene: VLDLR

Linked Data

• dbSNP Id: rs1274019927
• gnomAD v2: 9-2647591-T-A
• gnomAD v3: 9-2647591-T-A
• gnomAD v4: 9-2647591-T-A
• MyVariant Identifiers: chr9:g.2647591T>A (hg19) ; chr9:g.2647591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647591T>A , CM000671.2:g.2647591T>A	GRCh38
NC_000009.11:g.2647591T>A , CM000671.1:g.2647591T>A	GRCh37
NC_000009.10:g.2637591T>A	NCBI36
NG_012741.1:g.30799T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1379T>A
ENST00000382100.8:c.1821T>A MANE Select	ENSP00000371532.2:p.Leu607=
ENST00000478776.2:n.1266T>A
ENST00000679488.1:n.311T>A
ENST00000679718.1:n.1057T>A
ENST00000679750.1:n.1237T>A
ENST00000679851.1:n.2005T>A
ENST00000680021.1:n.2021T>A
ENST00000680043.1:c.1373T>A
ENST00000680219.1:c.1388T>A
ENST00000680243.1:c.*1600T>A	ENSP00000505911.1:n.*1600T>A
ENST00000680296.1:c.1247T>A
ENST00000680332.1:n.839T>A
ENST00000680746.1:c.1698T>A	ENSP00000505030.1:p.Leu566=
ENST00000680751.1:n.1226T>A
ENST00000680891.1:c.*1613T>A	ENSP00000505167.1:n.*1613T>A
ENST00000680975.1:n.1206T>A
ENST00000681087.1:n.1266T>A
ENST00000681306.1:c.1821T>A	ENSP00000506072.1:p.Leu607=
ENST00000681618.1:c.1698T>A	ENSP00000505773.1:p.Leu566=
ENST00000681644.1:c.*1493T>A	ENSP00000505180.1:n.*1493T>A
ENST00000681806.1:c.*259T>A	ENSP00000505282.1:n.*259T>A
ENST00000681942.1:c.1304T>A
ENST00000382099.2:c.1821T>A	ENSP00000371531.2:p.Leu607=
ENST00000382100.7:c.1821T>A	ENSP00000371532.2:p.Leu607=
ENST00000478776.1:n.333T>A
NM_001018056.1:c.1821T>A	NP_001018066.1:p.Leu607=
NM_003383.3:c.1821T>A	NP_003374.3:p.Leu607=
XM_011518029.1:c.1698T>A	XP_011516331.1:p.Leu566=
NM_001018056.2:c.1821T>A	NP_001018066.1:p.Leu607=
NM_001322225.1:c.1698T>A	NP_001309154.1:p.Leu566=
NM_001322226.1:c.1698T>A	NP_001309155.1:p.Leu566=
NM_003383.4:c.1821T>A	NP_003374.3:p.Leu607=
XR_001746373.2:n.2160T>A
XR_002956805.1:n.2160T>A
NM_003383.5:c.1821T>A MANE Select	NP_003374.3:p.Leu607=
NM_001018056.3:c.1821T>A	NP_001018066.1:p.Leu607=
NM_001322225.2:c.1698T>A	NP_001309154.1:p.Leu566=
NM_001322226.2:c.1698T>A	NP_001309155.1:p.Leu566=