Canonical Allele Identifier: CA372797116
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2647583-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2647583A>G , CM000671.2:g.2647583A>G GRCh38
NC_000009.11:g.2647583A>G , CM000671.1:g.2647583A>G GRCh37
NC_000009.10:g.2637583A>G NCBI36
NG_012741.1:g.30791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1371A>G
ENST00000382100.8:c.1813A>G MANE Select ENSP00000371532.2:p.Ile605Val
ENST00000478776.2:n.1258A>G
ENST00000679488.1:n.303A>G
ENST00000679718.1:n.1049A>G
ENST00000679750.1:n.1229A>G
ENST00000679851.1:n.1997A>G
ENST00000680021.1:n.2013A>G
ENST00000680043.1:c.1365A>G
ENST00000680219.1:c.1380A>G
ENST00000680243.1:c.*1592A>G ENSP00000505911.1:n.*1592A>G
ENST00000680296.1:c.1239A>G
ENST00000680332.1:n.831A>G
ENST00000680746.1:c.1690A>G ENSP00000505030.1:p.Ile564Val
ENST00000680751.1:n.1218A>G
ENST00000680891.1:c.*1605A>G ENSP00000505167.1:n.*1605A>G
ENST00000680975.1:n.1198A>G
ENST00000681087.1:n.1258A>G
ENST00000681306.1:c.1813A>G ENSP00000506072.1:p.Ile605Val
ENST00000681618.1:c.1690A>G ENSP00000505773.1:p.Ile564Val
ENST00000681644.1:c.*1485A>G ENSP00000505180.1:n.*1485A>G
ENST00000681806.1:c.*251A>G ENSP00000505282.1:n.*251A>G
ENST00000681942.1:c.1296A>G
ENST00000382099.2:c.1813A>G ENSP00000371531.2:p.Ile605Val
ENST00000382100.7:c.1813A>G ENSP00000371532.2:p.Ile605Val
ENST00000478776.1:n.325A>G
NM_001018056.1:c.1813A>G NP_001018066.1:p.Ile605Val
NM_003383.3:c.1813A>G NP_003374.3:p.Ile605Val
XM_011518029.1:c.1690A>G XP_011516331.1:p.Ile564Val
NM_001018056.2:c.1813A>G NP_001018066.1:p.Ile605Val
NM_001322225.1:c.1690A>G NP_001309154.1:p.Ile564Val
NM_001322226.1:c.1690A>G NP_001309155.1:p.Ile564Val
NM_003383.4:c.1813A>G NP_003374.3:p.Ile605Val
XR_001746373.2:n.2152A>G
XR_002956805.1:n.2152A>G
NM_003383.5:c.1813A>G MANE Select NP_003374.3:p.Ile605Val
NM_001018056.3:c.1813A>G NP_001018066.1:p.Ile605Val
NM_001322225.2:c.1690A>G NP_001309154.1:p.Ile564Val
NM_001322226.2:c.1690A>G NP_001309155.1:p.Ile564Val