Canonical Allele Identifier: CA1120577313

Gene: VLDLR

Linked Data

• dbSNP Id: rs968205983
• gnomAD v3: 9-2645991-C-A
• gnomAD v4: 9-2645991-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645991C>A , CM000671.2:g.2645991C>A	GRCh38
NC_000009.11:g.2645991C>A , CM000671.1:g.2645991C>A	GRCh37
NC_000009.10:g.2635991C>A	NCBI36
NG_012741.1:g.29199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1042+246C>A
ENST00000382100.8:c.1484+246C>A MANE Select	ENSP00000371532.2:n.1484+246C>A
ENST00000478776.2:n.929+246C>A
ENST00000679718.1:n.720+246C>A
ENST00000679750.1:n.900+246C>A
ENST00000679851.1:n.1668+246C>A
ENST00000680021.1:n.1684+246C>A
ENST00000680043.1:c.1036+246C>A
ENST00000680219.1:c.1051+246C>A
ENST00000680243.1:c.*1263+246C>A	ENSP00000505911.1:n.*1263+246C>A
ENST00000680296.1:c.910+246C>A
ENST00000680332.1:n.567+246C>A
ENST00000680746.1:c.1361+246C>A	ENSP00000505030.1:n.1361+246C>A
ENST00000680751.1:n.889+246C>A
ENST00000680891.1:c.*1276+246C>A	ENSP00000505167.1:n.*1276+246C>A
ENST00000680975.1:n.869+246C>A
ENST00000681087.1:n.929+246C>A
ENST00000681306.1:c.1484+246C>A	ENSP00000506072.1:n.1484+246C>A
ENST00000681618.1:c.1361+246C>A	ENSP00000505773.1:n.1361+246C>A
ENST00000681644.1:c.*1156+246C>A	ENSP00000505180.1:n.*1156+246C>A
ENST00000681806.1:c.1484+246C>A	ENSP00000505282.1:n.1484+246C>A
ENST00000681942.1:c.1032+246C>A
ENST00000382099.2:c.1484+246C>A	ENSP00000371531.2:n.1484+246C>A
ENST00000382100.7:c.1484+246C>A	ENSP00000371532.2:n.1484+246C>A
NM_001018056.1:c.1484+246C>A	NP_001018066.1:n.1484+246C>A
NM_003383.3:c.1484+246C>A	NP_003374.3:n.1484+246C>A
XM_011518029.1:c.1361+246C>A	XP_011516331.1:n.1361+246C>A
NM_001018056.2:c.1484+246C>A	NP_001018066.1:n.1484+246C>A
NM_001322225.1:c.1361+246C>A	NP_001309154.1:n.1361+246C>A
NM_001322226.1:c.1361+246C>A	NP_001309155.1:n.1361+246C>A
NM_003383.4:c.1484+246C>A	NP_003374.3:n.1484+246C>A
XR_001746373.2:n.1888+246C>A
XR_002956805.1:n.1888+246C>A
NM_003383.5:c.1484+246C>A MANE Select	NP_003374.3:n.1484+246C>A
NM_001018056.3:c.1484+246C>A	NP_001018066.1:n.1484+246C>A
NM_001322225.2:c.1361+246C>A	NP_001309154.1:n.1361+246C>A
NM_001322226.2:c.1361+246C>A	NP_001309155.1:n.1361+246C>A