Canonical Allele Identifier: CA372785686
Gene: VLDLR HGNC NCBI
VLDLR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1250322516
gnomAD v2: 9-2622205-C-A
gnomAD v3: 9-2622205-C-A
gnomAD v4: 9-2622205-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2622205C>A , CM000671.2:g.2622205C>A GRCh38
NC_000009.11:g.2622205C>A , CM000671.1:g.2622205C>A GRCh37
NC_000009.10:g.2612205C>A NCBI36
NG_012741.1:g.5413C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.16C>A (VLDLR) ENSP00000371528.2:p.Leu6Ile
ENST00000382100.8:c.16C>A (VLDLR) MANE Select ENSP00000371532.2:p.Leu6Ile
ENST00000679851.1:n.1C>A (VLDLR)
ENST00000680243.1:c.16C>A (VLDLR) ENSP00000505911.1:p.Leu6Ile
ENST00000680746.1:c.16C>A (VLDLR) ENSP00000505030.1:p.Leu6Ile
ENST00000680891.1:c.16C>A (VLDLR) ENSP00000505167.1:p.Leu6Ile
ENST00000681306.1:c.16C>A (VLDLR) ENSP00000506072.1:p.Leu6Ile
ENST00000681618.1:c.16C>A (VLDLR) ENSP00000505773.1:p.Leu6Ile
ENST00000681644.1:c.16C>A (VLDLR) ENSP00000505180.1:p.Leu6Ile
ENST00000681770.1:n.4C>A (VLDLR)
ENST00000681806.1:c.16C>A (VLDLR) ENSP00000505282.1:p.Leu6Ile
ENST00000382096.5:c.16C>A (VLDLR) ENSP00000371528.1:p.Leu6Ile
ENST00000382099.2:c.16C>A (VLDLR) ENSP00000371531.2:p.Leu6Ile
ENST00000382100.7:c.16C>A (VLDLR) ENSP00000371532.2:p.Leu6Ile
NM_001018056.1:c.16C>A (VLDLR) NP_001018066.1:p.Leu6Ile
NM_003383.3:c.16C>A (VLDLR) NP_003374.3:p.Leu6Ile
NR_015375.2:n.169G>T (VLDLR-AS1)
XM_011518029.1:c.16C>A (VLDLR) XP_011516331.1:p.Leu6Ile
NM_001018056.2:c.16C>A (VLDLR) NP_001018066.1:p.Leu6Ile
NM_001322225.1:c.16C>A (VLDLR) NP_001309154.1:p.Leu6Ile
NM_001322226.1:c.16C>A (VLDLR) NP_001309155.1:p.Leu6Ile
NM_003383.4:c.16C>A (VLDLR) NP_003374.3:p.Leu6Ile
XR_001746373.2:n.420C>A (VLDLR)
XR_002956805.1:n.420C>A (VLDLR)
NM_003383.5:c.16C>A (VLDLR) MANE Select NP_003374.3:p.Leu6Ile
NM_001018056.3:c.16C>A (VLDLR) NP_001018066.1:p.Leu6Ile
NM_001322225.2:c.16C>A (VLDLR) NP_001309154.1:p.Leu6Ile
NM_001322226.2:c.16C>A (VLDLR) NP_001309155.1:p.Leu6Ile