Canonical Allele Identifier: CA1120572250
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs2043139256
gnomAD v3: 9-2640711-A-T
gnomAD v4: 9-2640711-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2640711A>T , CM000671.2:g.2640711A>T GRCh38
NC_000009.11:g.2640711A>T , CM000671.1:g.2640711A>T GRCh37
NC_000009.10:g.2630711A>T NCBI36
NG_012741.1:g.23919A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382100.8:c.326-666A>T MANE Select ENSP00000371532.2:n.326-666A>T
ENST00000679851.1:n.311-666A>T
ENST00000680021.1:n.526-666A>T
ENST00000680243.1:c.*105-666A>T ENSP00000505911.1:n.*105-666A>T
ENST00000680746.1:c.325+730A>T ENSP00000505030.1:n.325+730A>T
ENST00000680891.1:c.*121-666A>T ENSP00000505167.1:n.*121-666A>T
ENST00000681306.1:c.326-666A>T ENSP00000506072.1:n.326-666A>T
ENST00000681618.1:c.325+730A>T ENSP00000505773.1:n.325+730A>T
ENST00000681644.1:c.*120+730A>T ENSP00000505180.1:n.*120+730A>T
ENST00000681770.1:n.1043A>T
ENST00000681806.1:c.326-666A>T ENSP00000505282.1:n.326-666A>T
ENST00000382096.5:c.325+730A>T ENSP00000371528.1:n.325+730A>T
ENST00000382099.2:c.326-666A>T ENSP00000371531.2:n.326-666A>T
ENST00000382100.7:c.326-666A>T ENSP00000371532.2:n.326-666A>T
NM_001018056.1:c.326-666A>T NP_001018066.1:n.326-666A>T
NM_003383.3:c.326-666A>T NP_003374.3:n.326-666A>T
XM_011518029.1:c.325+730A>T XP_011516331.1:n.325+730A>T
NM_001018056.2:c.326-666A>T NP_001018066.1:n.326-666A>T
NM_001322225.1:c.325+730A>T NP_001309154.1:n.325+730A>T
NM_001322226.1:c.325+730A>T NP_001309155.1:n.325+730A>T
NM_003383.4:c.326-666A>T NP_003374.3:n.326-666A>T
XR_001746373.2:n.730-666A>T
XR_002956805.1:n.730-666A>T
NM_003383.5:c.326-666A>T MANE Select NP_003374.3:n.326-666A>T
NM_001018056.3:c.326-666A>T NP_001018066.1:n.326-666A>T
NM_001322225.2:c.325+730A>T NP_001309154.1:n.325+730A>T
NM_001322226.2:c.325+730A>T NP_001309155.1:n.325+730A>T