Canonical Allele Identifier: CA2689246595
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2643151-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2643151T>C , CM000671.2:g.2643151T>C GRCh38
NC_000009.11:g.2643151T>C , CM000671.1:g.2643151T>C GRCh37
NC_000009.10:g.2633151T>C NCBI36
NG_012741.1:g.26359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382100.8:c.449-9T>C MANE Select ENSP00000371532.2:n.449-9T>C
ENST00000679851.1:n.434-9T>C
ENST00000680021.1:n.649-9T>C
ENST00000680243.1:c.*228-9T>C ENSP00000505911.1:n.*228-9T>C
ENST00000680746.1:c.326-9T>C ENSP00000505030.1:n.326-9T>C
ENST00000680891.1:c.*241-9T>C ENSP00000505167.1:n.*241-9T>C
ENST00000681306.1:c.449-9T>C ENSP00000506072.1:n.449-9T>C
ENST00000681618.1:c.326-9T>C ENSP00000505773.1:n.326-9T>C
ENST00000681644.1:c.*121-9T>C ENSP00000505180.1:n.*121-9T>C
ENST00000681806.1:c.449-9T>C ENSP00000505282.1:n.449-9T>C
ENST00000382096.5:c.326-9T>C ENSP00000371528.1:n.326-9T>C
ENST00000382099.2:c.449-9T>C ENSP00000371531.2:n.449-9T>C
ENST00000382100.7:c.449-9T>C ENSP00000371532.2:n.449-9T>C
NM_001018056.1:c.449-9T>C NP_001018066.1:n.449-9T>C
NM_003383.3:c.449-9T>C NP_003374.3:n.449-9T>C
XM_011518029.1:c.326-9T>C XP_011516331.1:n.326-9T>C
NM_001018056.2:c.449-9T>C NP_001018066.1:n.449-9T>C
NM_001322225.1:c.326-9T>C NP_001309154.1:n.326-9T>C
NM_001322226.1:c.326-9T>C NP_001309155.1:n.326-9T>C
NM_003383.4:c.449-9T>C NP_003374.3:n.449-9T>C
XR_001746373.2:n.853-9T>C
XR_002956805.1:n.853-9T>C
NM_003383.5:c.449-9T>C MANE Select NP_003374.3:n.449-9T>C
NM_001018056.3:c.449-9T>C NP_001018066.1:n.449-9T>C
NM_001322225.2:c.326-9T>C NP_001309154.1:n.326-9T>C
NM_001322226.2:c.326-9T>C NP_001309155.1:n.326-9T>C