Canonical Allele Identifier: CA4964551
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs560928512
gnomAD v2: 9-2643161-C-A
gnomAD v3: 9-2643161-C-A
gnomAD v4: 9-2643161-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2643161C>A , CM000671.2:g.2643161C>A GRCh38
NC_000009.11:g.2643161C>A , CM000671.1:g.2643161C>A GRCh37
NC_000009.10:g.2633161C>A NCBI36
NG_012741.1:g.26369C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.2C>A
ENST00000382100.8:c.450C>A MANE Select ENSP00000371532.2:p.Gly150=
ENST00000679851.1:n.435C>A
ENST00000680021.1:n.650C>A
ENST00000680043.1:c.2C>A
ENST00000680219.1:c.2C>A
ENST00000680243.1:c.*229C>A ENSP00000505911.1:n.*229C>A
ENST00000680296.1:c.2C>A
ENST00000680746.1:c.327C>A ENSP00000505030.1:p.Arg109=
ENST00000680891.1:c.*242C>A ENSP00000505167.1:n.*242C>A
ENST00000681306.1:c.450C>A ENSP00000506072.1:p.Gly150=
ENST00000681618.1:c.327C>A ENSP00000505773.1:p.Arg109=
ENST00000681644.1:c.*122C>A ENSP00000505180.1:n.*122C>A
ENST00000681806.1:c.450C>A ENSP00000505282.1:p.Gly150=
ENST00000681942.1:c.2C>A
ENST00000382096.5:c.327C>A ENSP00000371528.1:p.Arg109=
ENST00000382099.2:c.450C>A ENSP00000371531.2:p.Gly150=
ENST00000382100.7:c.450C>A ENSP00000371532.2:p.Gly150=
NM_001018056.1:c.450C>A NP_001018066.1:p.Gly150=
NM_003383.3:c.450C>A NP_003374.3:p.Gly150=
XM_011518029.1:c.327C>A XP_011516331.1:p.Arg109=
NM_001018056.2:c.450C>A NP_001018066.1:p.Gly150=
NM_001322225.1:c.327C>A NP_001309154.1:p.Arg109=
NM_001322226.1:c.327C>A NP_001309155.1:p.Arg109=
NM_003383.4:c.450C>A NP_003374.3:p.Gly150=
XR_001746373.2:n.854C>A
XR_002956805.1:n.854C>A
NM_003383.5:c.450C>A MANE Select NP_003374.3:p.Gly150=
NM_001018056.3:c.450C>A NP_001018066.1:p.Gly150=
NM_001322225.2:c.327C>A NP_001309154.1:p.Arg109=
NM_001322226.2:c.327C>A NP_001309155.1:p.Arg109=