Canonical Allele Identifier: CA4964557

Gene: VLDLR

Linked Data

• dbSNP Id: rs149246957
• ExAC: 9:2643183 G / A
• gnomAD v2: 9-2643183-G-A
• gnomAD v3: 9-2643183-G-A
• gnomAD v4: 9-2643183-G-A
• MyVariant Identifiers: chr9:g.2643183G>A (hg19) ; chr9:g.2643183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643183G>A , CM000671.2:g.2643183G>A	GRCh38
NC_000009.11:g.2643183G>A , CM000671.1:g.2643183G>A	GRCh37
NC_000009.10:g.2633183G>A	NCBI36
NG_012741.1:g.26391G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.24G>A
ENST00000382100.8:c.472G>A MANE Select	ENSP00000371532.2:p.Glu158Lys
ENST00000679851.1:n.457G>A
ENST00000680021.1:n.672G>A
ENST00000680043.1:c.24G>A
ENST00000680219.1:c.24G>A
ENST00000680243.1:c.*251G>A	ENSP00000505911.1:n.*251G>A
ENST00000680296.1:c.24G>A
ENST00000680746.1:c.349G>A	ENSP00000505030.1:p.Glu117Lys
ENST00000680891.1:c.*264G>A	ENSP00000505167.1:n.*264G>A
ENST00000681306.1:c.472G>A	ENSP00000506072.1:p.Glu158Lys
ENST00000681618.1:c.349G>A	ENSP00000505773.1:p.Glu117Lys
ENST00000681644.1:c.*144G>A	ENSP00000505180.1:n.*144G>A
ENST00000681806.1:c.472G>A	ENSP00000505282.1:p.Glu158Lys
ENST00000681942.1:c.24G>A
ENST00000382096.5:c.349G>A	ENSP00000371528.1:p.Glu117Lys
ENST00000382099.2:c.472G>A	ENSP00000371531.2:p.Glu158Lys
ENST00000382100.7:c.472G>A	ENSP00000371532.2:p.Glu158Lys
NM_001018056.1:c.472G>A	NP_001018066.1:p.Glu158Lys
NM_003383.3:c.472G>A	NP_003374.3:p.Glu158Lys
XM_011518029.1:c.349G>A	XP_011516331.1:p.Glu117Lys
NM_001018056.2:c.472G>A	NP_001018066.1:p.Glu158Lys
NM_001322225.1:c.349G>A	NP_001309154.1:p.Glu117Lys
NM_001322226.1:c.349G>A	NP_001309155.1:p.Glu117Lys
NM_003383.4:c.472G>A	NP_003374.3:p.Glu158Lys
XR_001746373.2:n.876G>A
XR_002956805.1:n.876G>A
NM_003383.5:c.472G>A MANE Select	NP_003374.3:p.Glu158Lys
NM_001018056.3:c.472G>A	NP_001018066.1:p.Glu158Lys
NM_001322225.2:c.349G>A	NP_001309154.1:p.Glu117Lys
NM_001322226.2:c.349G>A	NP_001309155.1:p.Glu117Lys