Canonical Allele Identifier: CA155916

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 130705
• ClinVar RCV Id: RCV000118819 ; RCV000333724 ; RCV001167940 ; RCV001573169
• dbSNP Id: rs6149
• ExAC: 9:2635545 G / A
• gnomAD v2: 9-2635545-G-A
• gnomAD v3: 9-2635545-G-A
• gnomAD v4: 9-2635545-G-A
• MyVariant Identifiers: chr9:g.2635545G>A (hg19) ; chr9:g.2635545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2635545G>A , CM000671.2:g.2635545G>A	GRCh38
NC_000009.11:g.2635545G>A , CM000671.1:g.2635545G>A	GRCh37
NC_000009.10:g.2625545G>A	NCBI36
NG_012741.1:g.18753G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382096.6:c.175G>A	ENSP00000371528.2:p.Val59Ile
ENST00000382100.8:c.175G>A MANE Select	ENSP00000371532.2:p.Val59Ile
ENST00000679851.1:n.160G>A
ENST00000680021.1:n.375G>A
ENST00000680243.1:c.175G>A	ENSP00000505911.1:p.Val59Ile
ENST00000680746.1:c.175G>A	ENSP00000505030.1:p.Val59Ile
ENST00000680891.1:c.273G>A	ENSP00000505167.1:p.Val91=
ENST00000681306.1:c.175G>A	ENSP00000506072.1:p.Val59Ile
ENST00000681618.1:c.175G>A	ENSP00000505773.1:p.Val59Ile
ENST00000681644.1:c.273G>A	ENSP00000505180.1:p.Val91=
ENST00000681770.1:n.163G>A
ENST00000681806.1:c.175G>A	ENSP00000505282.1:p.Val59Ile
ENST00000382096.5:c.175G>A	ENSP00000371528.1:p.Val59Ile
ENST00000382099.2:c.175G>A	ENSP00000371531.2:p.Val59Ile
ENST00000382100.7:c.175G>A	ENSP00000371532.2:p.Val59Ile
NM_001018056.1:c.175G>A	NP_001018066.1:p.Val59Ile
NM_003383.3:c.175G>A	NP_003374.3:p.Val59Ile
XM_011518029.1:c.175G>A	XP_011516331.1:p.Val59Ile
NM_001018056.2:c.175G>A	NP_001018066.1:p.Val59Ile
NM_001322225.1:c.175G>A	NP_001309154.1:p.Val59Ile
NM_001322226.1:c.175G>A	NP_001309155.1:p.Val59Ile
NM_003383.4:c.175G>A	NP_003374.3:p.Val59Ile
XR_001746373.2:n.579G>A
XR_002956805.1:n.579G>A
NM_003383.5:c.175G>A MANE Select	NP_003374.3:p.Val59Ile
NM_001018056.3:c.175G>A	NP_001018066.1:p.Val59Ile
NM_001322225.2:c.175G>A	NP_001309154.1:p.Val59Ile
NM_001322226.2:c.175G>A	NP_001309155.1:p.Val59Ile