Canonical Allele Identifier: CA15592183
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1181633
ClinVar RCV Id: RCV001539066
dbSNP Id: rs3780181
gnomAD v2: 9-2640759-A-G
gnomAD v3: 9-2640759-A-G
gnomAD v4: 9-2640759-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2640759A>G , CM000671.2:g.2640759A>G GRCh38
NC_000009.11:g.2640759A>G , CM000671.1:g.2640759A>G GRCh37
NC_000009.10:g.2630759A>G NCBI36
NG_012741.1:g.23967A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382100.8:c.326-618A>G MANE Select ENSP00000371532.2:n.326-618A>G
ENST00000679851.1:n.311-618A>G
ENST00000680021.1:n.526-618A>G
ENST00000680243.1:c.*105-618A>G ENSP00000505911.1:n.*105-618A>G
ENST00000680746.1:c.325+778A>G ENSP00000505030.1:n.325+778A>G
ENST00000680891.1:c.*121-618A>G ENSP00000505167.1:n.*121-618A>G
ENST00000681306.1:c.326-618A>G ENSP00000506072.1:n.326-618A>G
ENST00000681618.1:c.325+778A>G ENSP00000505773.1:n.325+778A>G
ENST00000681644.1:c.*120+778A>G ENSP00000505180.1:n.*120+778A>G
ENST00000681770.1:n.1091A>G
ENST00000681806.1:c.326-618A>G ENSP00000505282.1:n.326-618A>G
ENST00000382096.5:c.325+778A>G ENSP00000371528.1:n.325+778A>G
ENST00000382099.2:c.326-618A>G ENSP00000371531.2:n.326-618A>G
ENST00000382100.7:c.326-618A>G ENSP00000371532.2:n.326-618A>G
NM_001018056.1:c.326-618A>G NP_001018066.1:n.326-618A>G
NM_003383.3:c.326-618A>G NP_003374.3:n.326-618A>G
XM_011518029.1:c.325+778A>G XP_011516331.1:n.325+778A>G
NM_001018056.2:c.326-618A>G NP_001018066.1:n.326-618A>G
NM_001322225.1:c.325+778A>G NP_001309154.1:n.325+778A>G
NM_001322226.1:c.325+778A>G NP_001309155.1:n.325+778A>G
NM_003383.4:c.326-618A>G NP_003374.3:n.326-618A>G
XR_001746373.2:n.730-618A>G
XR_002956805.1:n.730-618A>G
NM_003383.5:c.326-618A>G MANE Select NP_003374.3:n.326-618A>G
NM_001018056.3:c.326-618A>G NP_001018066.1:n.326-618A>G
NM_001322225.2:c.325+778A>G NP_001309154.1:n.325+778A>G
NM_001322226.2:c.325+778A>G NP_001309155.1:n.325+778A>G