Canonical Allele Identifier: CA4964819
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs149478788
gnomAD v2: 9-2645635-G-T
gnomAD v4: 9-2645635-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645635G>T , CM000671.2:g.2645635G>T GRCh38
NC_000009.11:g.2645635G>T , CM000671.1:g.2645635G>T GRCh37
NC_000009.10:g.2635635G>T NCBI36
NG_012741.1:g.28843G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.932G>T
ENST00000382100.8:c.1374G>T MANE Select ENSP00000371532.2:p.Arg458Ser
ENST00000478776.2:n.819G>T
ENST00000679718.1:n.610G>T
ENST00000679750.1:n.790G>T
ENST00000679851.1:n.1558G>T
ENST00000680021.1:n.1574G>T
ENST00000680043.1:c.926G>T
ENST00000680219.1:c.941G>T
ENST00000680243.1:c.*1153G>T ENSP00000505911.1:n.*1153G>T
ENST00000680296.1:c.800G>T
ENST00000680332.1:n.457G>T
ENST00000680746.1:c.1251G>T ENSP00000505030.1:p.Arg417Ser
ENST00000680751.1:n.779G>T
ENST00000680891.1:c.*1166G>T ENSP00000505167.1:n.*1166G>T
ENST00000680975.1:n.759G>T
ENST00000681087.1:n.819G>T
ENST00000681306.1:c.1374G>T ENSP00000506072.1:p.Arg458Ser
ENST00000681618.1:c.1251G>T ENSP00000505773.1:p.Arg417Ser
ENST00000681644.1:c.*1046G>T ENSP00000505180.1:n.*1046G>T
ENST00000681806.1:c.1374G>T ENSP00000505282.1:p.Arg458Ser
ENST00000681942.1:c.922G>T
ENST00000382099.2:c.1374G>T ENSP00000371531.2:p.Arg458Ser
ENST00000382100.7:c.1374G>T ENSP00000371532.2:p.Arg458Ser
NM_001018056.1:c.1374G>T NP_001018066.1:p.Arg458Ser
NM_003383.3:c.1374G>T NP_003374.3:p.Arg458Ser
XM_011518029.1:c.1251G>T XP_011516331.1:p.Arg417Ser
NM_001018056.2:c.1374G>T NP_001018066.1:p.Arg458Ser
NM_001322225.1:c.1251G>T NP_001309154.1:p.Arg417Ser
NM_001322226.1:c.1251G>T NP_001309155.1:p.Arg417Ser
NM_003383.4:c.1374G>T NP_003374.3:p.Arg458Ser
XR_001746373.2:n.1778G>T
XR_002956805.1:n.1778G>T
NM_003383.5:c.1374G>T MANE Select NP_003374.3:p.Arg458Ser
NM_001018056.3:c.1374G>T NP_001018066.1:p.Arg458Ser
NM_001322225.2:c.1251G>T NP_001309154.1:p.Arg417Ser
NM_001322226.2:c.1251G>T NP_001309155.1:p.Arg417Ser