Canonical Allele Identifier: CA2689248350
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2647619-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2647619C>G , CM000671.2:g.2647619C>G GRCh38
NC_000009.11:g.2647619C>G , CM000671.1:g.2647619C>G GRCh37
NC_000009.10:g.2637619C>G NCBI36
NG_012741.1:g.30827C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1380+27C>G
ENST00000382100.8:c.1822+27C>G MANE Select ENSP00000371532.2:n.1822+27C>G
ENST00000478776.2:n.1294C>G
ENST00000679488.1:n.339C>G
ENST00000679718.1:n.1058+27C>G
ENST00000679750.1:n.1238+27C>G
ENST00000679780.1:n.10C>G
ENST00000679851.1:n.2033C>G
ENST00000680021.1:n.2022+27C>G
ENST00000680043.1:c.1374+27C>G
ENST00000680219.1:c.1389+27C>G
ENST00000680243.1:c.*1601+27C>G ENSP00000505911.1:n.*1601+27C>G
ENST00000680296.1:c.1248+27C>G
ENST00000680332.1:n.867C>G
ENST00000680746.1:c.1699+27C>G ENSP00000505030.1:n.1699+27C>G
ENST00000680751.1:n.1227+27C>G
ENST00000680891.1:c.*1614+27C>G ENSP00000505167.1:n.*1614+27C>G
ENST00000680975.1:n.1207+27C>G
ENST00000681087.1:n.1267+27C>G
ENST00000681306.1:c.1822+27C>G ENSP00000506072.1:n.1822+27C>G
ENST00000681618.1:c.1699+27C>G ENSP00000505773.1:n.1699+27C>G
ENST00000681644.1:c.*1494+27C>G ENSP00000505180.1:n.*1494+27C>G
ENST00000681806.1:c.*260+27C>G ENSP00000505282.1:n.*260+27C>G
ENST00000681942.1:c.1305+27C>G
ENST00000382099.2:c.1822+27C>G ENSP00000371531.2:n.1822+27C>G
ENST00000382100.7:c.1822+27C>G ENSP00000371532.2:n.1822+27C>G
ENST00000478776.1:n.361C>G
NM_001018056.1:c.1822+27C>G NP_001018066.1:n.1822+27C>G
NM_003383.3:c.1822+27C>G NP_003374.3:n.1822+27C>G
XM_011518029.1:c.1699+27C>G XP_011516331.1:n.1699+27C>G
NM_001018056.2:c.1822+27C>G NP_001018066.1:n.1822+27C>G
NM_001322225.1:c.1699+27C>G NP_001309154.1:n.1699+27C>G
NM_001322226.1:c.1699+27C>G NP_001309155.1:n.1699+27C>G
NM_003383.4:c.1822+27C>G NP_003374.3:n.1822+27C>G
XR_001746373.2:n.2161+27C>G
XR_002956805.1:n.2161+27C>G
NM_003383.5:c.1822+27C>G MANE Select NP_003374.3:n.1822+27C>G
NM_001018056.3:c.1822+27C>G NP_001018066.1:n.1822+27C>G
NM_001322225.2:c.1699+27C>G NP_001309154.1:n.1699+27C>G
NM_001322226.2:c.1699+27C>G NP_001309155.1:n.1699+27C>G