Canonical Allele Identifier: CA2689248372
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2647660-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2647660G>T , CM000671.2:g.2647660G>T GRCh38
NC_000009.11:g.2647660G>T , CM000671.1:g.2647660G>T GRCh37
NC_000009.10:g.2637660G>T NCBI36
NG_012741.1:g.30868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1380+68G>T
ENST00000382100.8:c.1822+68G>T MANE Select ENSP00000371532.2:n.1822+68G>T
ENST00000478776.2:n.1335G>T
ENST00000679488.1:n.380G>T
ENST00000679718.1:n.1058+68G>T
ENST00000679750.1:n.1238+68G>T
ENST00000679780.1:n.51G>T
ENST00000679851.1:n.2074G>T
ENST00000680021.1:n.2022+68G>T
ENST00000680043.1:c.1374+68G>T
ENST00000680219.1:c.1389+68G>T
ENST00000680243.1:c.*1601+68G>T ENSP00000505911.1:n.*1601+68G>T
ENST00000680296.1:c.1248+68G>T
ENST00000680332.1:n.908G>T
ENST00000680746.1:c.1699+68G>T ENSP00000505030.1:n.1699+68G>T
ENST00000680751.1:n.1227+68G>T
ENST00000680891.1:c.*1614+68G>T ENSP00000505167.1:n.*1614+68G>T
ENST00000680975.1:n.1207+68G>T
ENST00000681087.1:n.1267+68G>T
ENST00000681306.1:c.1822+68G>T ENSP00000506072.1:n.1822+68G>T
ENST00000681618.1:c.1699+68G>T ENSP00000505773.1:n.1699+68G>T
ENST00000681644.1:c.*1494+68G>T ENSP00000505180.1:n.*1494+68G>T
ENST00000681806.1:c.*260+68G>T ENSP00000505282.1:n.*260+68G>T
ENST00000681942.1:c.1305+68G>T
ENST00000382099.2:c.1822+68G>T ENSP00000371531.2:n.1822+68G>T
ENST00000382100.7:c.1822+68G>T ENSP00000371532.2:n.1822+68G>T
ENST00000478776.1:n.402G>T
NM_001018056.1:c.1822+68G>T NP_001018066.1:n.1822+68G>T
NM_003383.3:c.1822+68G>T NP_003374.3:n.1822+68G>T
XM_011518029.1:c.1699+68G>T XP_011516331.1:n.1699+68G>T
NM_001018056.2:c.1822+68G>T NP_001018066.1:n.1822+68G>T
NM_001322225.1:c.1699+68G>T NP_001309154.1:n.1699+68G>T
NM_001322226.1:c.1699+68G>T NP_001309155.1:n.1699+68G>T
NM_003383.4:c.1822+68G>T NP_003374.3:n.1822+68G>T
XR_001746373.2:n.2161+68G>T
XR_002956805.1:n.2161+68G>T
NM_003383.5:c.1822+68G>T MANE Select NP_003374.3:n.1822+68G>T
NM_001018056.3:c.1822+68G>T NP_001018066.1:n.1822+68G>T
NM_001322225.2:c.1699+68G>T NP_001309154.1:n.1699+68G>T
NM_001322226.2:c.1699+68G>T NP_001309155.1:n.1699+68G>T