Canonical Allele Identifier: CA585927441
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1409071653
gnomAD v2: 9-2647637-T-C
gnomAD v4: 9-2647637-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2647637T>C , CM000671.2:g.2647637T>C GRCh38
NC_000009.11:g.2647637T>C , CM000671.1:g.2647637T>C GRCh37
NC_000009.10:g.2637637T>C NCBI36
NG_012741.1:g.30845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1380+45T>C
ENST00000382100.8:c.1822+45T>C MANE Select ENSP00000371532.2:n.1822+45T>C
ENST00000478776.2:n.1312T>C
ENST00000679488.1:n.357T>C
ENST00000679718.1:n.1058+45T>C
ENST00000679750.1:n.1238+45T>C
ENST00000679780.1:n.28T>C
ENST00000679851.1:n.2051T>C
ENST00000680021.1:n.2022+45T>C
ENST00000680043.1:c.1374+45T>C
ENST00000680219.1:c.1389+45T>C
ENST00000680243.1:c.*1601+45T>C ENSP00000505911.1:n.*1601+45T>C
ENST00000680296.1:c.1248+45T>C
ENST00000680332.1:n.885T>C
ENST00000680746.1:c.1699+45T>C ENSP00000505030.1:n.1699+45T>C
ENST00000680751.1:n.1227+45T>C
ENST00000680891.1:c.*1614+45T>C ENSP00000505167.1:n.*1614+45T>C
ENST00000680975.1:n.1207+45T>C
ENST00000681087.1:n.1267+45T>C
ENST00000681306.1:c.1822+45T>C ENSP00000506072.1:n.1822+45T>C
ENST00000681618.1:c.1699+45T>C ENSP00000505773.1:n.1699+45T>C
ENST00000681644.1:c.*1494+45T>C ENSP00000505180.1:n.*1494+45T>C
ENST00000681806.1:c.*260+45T>C ENSP00000505282.1:n.*260+45T>C
ENST00000681942.1:c.1305+45T>C
ENST00000382099.2:c.1822+45T>C ENSP00000371531.2:n.1822+45T>C
ENST00000382100.7:c.1822+45T>C ENSP00000371532.2:n.1822+45T>C
ENST00000478776.1:n.379T>C
NM_001018056.1:c.1822+45T>C NP_001018066.1:n.1822+45T>C
NM_003383.3:c.1822+45T>C NP_003374.3:n.1822+45T>C
XM_011518029.1:c.1699+45T>C XP_011516331.1:n.1699+45T>C
NM_001018056.2:c.1822+45T>C NP_001018066.1:n.1822+45T>C
NM_001322225.1:c.1699+45T>C NP_001309154.1:n.1699+45T>C
NM_001322226.1:c.1699+45T>C NP_001309155.1:n.1699+45T>C
NM_003383.4:c.1822+45T>C NP_003374.3:n.1822+45T>C
XR_001746373.2:n.2161+45T>C
XR_002956805.1:n.2161+45T>C
NM_003383.5:c.1822+45T>C MANE Select NP_003374.3:n.1822+45T>C
NM_001018056.3:c.1822+45T>C NP_001018066.1:n.1822+45T>C
NM_001322225.2:c.1699+45T>C NP_001309154.1:n.1699+45T>C
NM_001322226.2:c.1699+45T>C NP_001309155.1:n.1699+45T>C