Canonical Allele Identifier: CA4964558
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs753431442
gnomAD v2: 9-2643185-G-A
gnomAD v4: 9-2643185-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2643185G>A , CM000671.2:g.2643185G>A GRCh38
NC_000009.11:g.2643185G>A , CM000671.1:g.2643185G>A GRCh37
NC_000009.10:g.2633185G>A NCBI36
NG_012741.1:g.26393G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382099.3:c.26G>A
ENST00000382100.8:c.474G>A MANE Select ENSP00000371532.2:p.Glu158=
ENST00000679851.1:n.459G>A
ENST00000680021.1:n.674G>A
ENST00000680043.1:c.26G>A
ENST00000680219.1:c.26G>A
ENST00000680243.1:c.*253G>A ENSP00000505911.1:n.*253G>A
ENST00000680296.1:c.26G>A
ENST00000680746.1:c.351G>A ENSP00000505030.1:p.Glu117=
ENST00000680891.1:c.*266G>A ENSP00000505167.1:n.*266G>A
ENST00000681306.1:c.474G>A ENSP00000506072.1:p.Glu158=
ENST00000681618.1:c.351G>A ENSP00000505773.1:p.Glu117=
ENST00000681644.1:c.*146G>A ENSP00000505180.1:n.*146G>A
ENST00000681806.1:c.474G>A ENSP00000505282.1:p.Glu158=
ENST00000681942.1:c.26G>A
ENST00000382096.5:c.351G>A ENSP00000371528.1:p.Glu117=
ENST00000382099.2:c.474G>A ENSP00000371531.2:p.Glu158=
ENST00000382100.7:c.474G>A ENSP00000371532.2:p.Glu158=
NM_001018056.1:c.474G>A NP_001018066.1:p.Glu158=
NM_003383.3:c.474G>A NP_003374.3:p.Glu158=
XM_011518029.1:c.351G>A XP_011516331.1:p.Glu117=
NM_001018056.2:c.474G>A NP_001018066.1:p.Glu158=
NM_001322225.1:c.351G>A NP_001309154.1:p.Glu117=
NM_001322226.1:c.351G>A NP_001309155.1:p.Glu117=
NM_003383.4:c.474G>A NP_003374.3:p.Glu158=
XR_001746373.2:n.878G>A
XR_002956805.1:n.878G>A
NM_003383.5:c.474G>A MANE Select NP_003374.3:p.Glu158=
NM_001018056.3:c.474G>A NP_001018066.1:p.Glu158=
NM_001322225.2:c.351G>A NP_001309154.1:p.Glu117=
NM_001322226.2:c.351G>A NP_001309155.1:p.Glu117=