Canonical Allele Identifier: CA4964818
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs747563957
gnomAD v2: 9-2645630-G-A
gnomAD v4: 9-2645630-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645630G>A , CM000671.2:g.2645630G>A GRCh38
NC_000009.11:g.2645630G>A , CM000671.1:g.2645630G>A GRCh37
NC_000009.10:g.2635630G>A NCBI36
NG_012741.1:g.28838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.927G>A
ENST00000382100.8:c.1369G>A MANE Select ENSP00000371532.2:p.Glu457Lys
ENST00000478776.2:n.814G>A
ENST00000679718.1:n.605G>A
ENST00000679750.1:n.785G>A
ENST00000679851.1:n.1553G>A
ENST00000680021.1:n.1569G>A
ENST00000680043.1:c.921G>A
ENST00000680219.1:c.936G>A
ENST00000680243.1:c.*1148G>A ENSP00000505911.1:n.*1148G>A
ENST00000680296.1:c.795G>A
ENST00000680332.1:n.452G>A
ENST00000680746.1:c.1246G>A ENSP00000505030.1:p.Glu416Lys
ENST00000680751.1:n.774G>A
ENST00000680891.1:c.*1161G>A ENSP00000505167.1:n.*1161G>A
ENST00000680975.1:n.754G>A
ENST00000681087.1:n.814G>A
ENST00000681306.1:c.1369G>A ENSP00000506072.1:p.Glu457Lys
ENST00000681618.1:c.1246G>A ENSP00000505773.1:p.Glu416Lys
ENST00000681644.1:c.*1041G>A ENSP00000505180.1:n.*1041G>A
ENST00000681806.1:c.1369G>A ENSP00000505282.1:p.Glu457Lys
ENST00000681942.1:c.917G>A
ENST00000382099.2:c.1369G>A ENSP00000371531.2:p.Glu457Lys
ENST00000382100.7:c.1369G>A ENSP00000371532.2:p.Glu457Lys
NM_001018056.1:c.1369G>A NP_001018066.1:p.Glu457Lys
NM_003383.3:c.1369G>A NP_003374.3:p.Glu457Lys
XM_011518029.1:c.1246G>A XP_011516331.1:p.Glu416Lys
NM_001018056.2:c.1369G>A NP_001018066.1:p.Glu457Lys
NM_001322225.1:c.1246G>A NP_001309154.1:p.Glu416Lys
NM_001322226.1:c.1246G>A NP_001309155.1:p.Glu416Lys
NM_003383.4:c.1369G>A NP_003374.3:p.Glu457Lys
XR_001746373.2:n.1773G>A
XR_002956805.1:n.1773G>A
NM_003383.5:c.1369G>A MANE Select NP_003374.3:p.Glu457Lys
NM_001018056.3:c.1369G>A NP_001018066.1:p.Glu457Lys
NM_001322225.2:c.1246G>A NP_001309154.1:p.Glu416Lys
NM_001322226.2:c.1246G>A NP_001309155.1:p.Glu416Lys