Canonical Allele Identifier: CA4964806

Gene: VLDLR

Linked Data

• dbSNP Id: rs200605669
• ExAC: 9:2645574 G / T
• gnomAD v2: 9-2645574-G-T
• gnomAD v4: 9-2645574-G-T
• MyVariant Identifiers: chr9:g.2645574G>T (hg19) ; chr9:g.2645574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645574G>T , CM000671.2:g.2645574G>T	GRCh38
NC_000009.11:g.2645574G>T , CM000671.1:g.2645574G>T	GRCh37
NC_000009.10:g.2635574G>T	NCBI36
NG_012741.1:g.28782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.871G>T
ENST00000382100.8:c.1313G>T MANE Select	ENSP00000371532.2:p.Gly438Val
ENST00000478776.2:n.758G>T
ENST00000679718.1:n.549G>T
ENST00000679750.1:n.729G>T
ENST00000679851.1:n.1497G>T
ENST00000680021.1:n.1513G>T
ENST00000680043.1:c.865G>T
ENST00000680219.1:c.880G>T
ENST00000680243.1:c.*1092G>T	ENSP00000505911.1:n.*1092G>T
ENST00000680296.1:c.739G>T
ENST00000680332.1:n.396G>T
ENST00000680746.1:c.1190G>T	ENSP00000505030.1:p.Gly397Val
ENST00000680751.1:n.718G>T
ENST00000680891.1:c.*1105G>T	ENSP00000505167.1:n.*1105G>T
ENST00000680975.1:n.698G>T
ENST00000681087.1:n.758G>T
ENST00000681306.1:c.1313G>T	ENSP00000506072.1:p.Gly438Val
ENST00000681618.1:c.1190G>T	ENSP00000505773.1:p.Gly397Val
ENST00000681644.1:c.*985G>T	ENSP00000505180.1:n.*985G>T
ENST00000681806.1:c.1313G>T	ENSP00000505282.1:p.Gly438Val
ENST00000681942.1:c.861G>T
ENST00000382099.2:c.1313G>T	ENSP00000371531.2:p.Gly438Val
ENST00000382100.7:c.1313G>T	ENSP00000371532.2:p.Gly438Val
NM_001018056.1:c.1313G>T	NP_001018066.1:p.Gly438Val
NM_003383.3:c.1313G>T	NP_003374.3:p.Gly438Val
XM_011518029.1:c.1190G>T	XP_011516331.1:p.Gly397Val
NM_001018056.2:c.1313G>T	NP_001018066.1:p.Gly438Val
NM_001322225.1:c.1190G>T	NP_001309154.1:p.Gly397Val
NM_001322226.1:c.1190G>T	NP_001309155.1:p.Gly397Val
NM_003383.4:c.1313G>T	NP_003374.3:p.Gly438Val
XR_001746373.2:n.1717G>T
XR_002956805.1:n.1717G>T
NM_003383.5:c.1313G>T MANE Select	NP_003374.3:p.Gly438Val
NM_001018056.3:c.1313G>T	NP_001018066.1:p.Gly438Val
NM_001322225.2:c.1190G>T	NP_001309154.1:p.Gly397Val
NM_001322226.2:c.1190G>T	NP_001309155.1:p.Gly397Val