Canonical Allele Identifier: CA372790289
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1203948151
gnomAD v2: 9-2643174-A-T
gnomAD v3: 9-2643174-A-T
gnomAD v4: 9-2643174-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2643174A>T , CM000671.2:g.2643174A>T GRCh38
NC_000009.11:g.2643174A>T , CM000671.1:g.2643174A>T GRCh37
NC_000009.10:g.2633174A>T NCBI36
NG_012741.1:g.26382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.15A>T
ENST00000382100.8:c.463A>T MANE Select ENSP00000371532.2:p.Ser155Cys
ENST00000679851.1:n.448A>T
ENST00000680021.1:n.663A>T
ENST00000680043.1:c.15A>T
ENST00000680219.1:c.15A>T
ENST00000680243.1:c.*242A>T ENSP00000505911.1:n.*242A>T
ENST00000680296.1:c.15A>T
ENST00000680746.1:c.340A>T ENSP00000505030.1:p.Ser114Cys
ENST00000680891.1:c.*255A>T ENSP00000505167.1:n.*255A>T
ENST00000681306.1:c.463A>T ENSP00000506072.1:p.Ser155Cys
ENST00000681618.1:c.340A>T ENSP00000505773.1:p.Ser114Cys
ENST00000681644.1:c.*135A>T ENSP00000505180.1:n.*135A>T
ENST00000681806.1:c.463A>T ENSP00000505282.1:p.Ser155Cys
ENST00000681942.1:c.15A>T
ENST00000382096.5:c.340A>T ENSP00000371528.1:p.Ser114Cys
ENST00000382099.2:c.463A>T ENSP00000371531.2:p.Ser155Cys
ENST00000382100.7:c.463A>T ENSP00000371532.2:p.Ser155Cys
NM_001018056.1:c.463A>T NP_001018066.1:p.Ser155Cys
NM_003383.3:c.463A>T NP_003374.3:p.Ser155Cys
XM_011518029.1:c.340A>T XP_011516331.1:p.Ser114Cys
NM_001018056.2:c.463A>T NP_001018066.1:p.Ser155Cys
NM_001322225.1:c.340A>T NP_001309154.1:p.Ser114Cys
NM_001322226.1:c.340A>T NP_001309155.1:p.Ser114Cys
NM_003383.4:c.463A>T NP_003374.3:p.Ser155Cys
XR_001746373.2:n.867A>T
XR_002956805.1:n.867A>T
NM_003383.5:c.463A>T MANE Select NP_003374.3:p.Ser155Cys
NM_001018056.3:c.463A>T NP_001018066.1:p.Ser155Cys
NM_001322225.2:c.340A>T NP_001309154.1:p.Ser114Cys
NM_001322226.2:c.340A>T NP_001309155.1:p.Ser114Cys