Canonical Allele Identifier: CA2689247515
Gene: VLDLR HGNC NCBI

Linked Data

gnomAD v4: 9-2645563-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645563C>T , CM000671.2:g.2645563C>T GRCh38
NC_000009.11:g.2645563C>T , CM000671.1:g.2645563C>T GRCh37
NC_000009.10:g.2635563C>T NCBI36
NG_012741.1:g.28771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.871-11C>T
ENST00000382100.8:c.1313-11C>T MANE Select ENSP00000371532.2:n.1313-11C>T
ENST00000478776.2:n.758-11C>T
ENST00000679718.1:n.549-11C>T
ENST00000679750.1:n.729-11C>T
ENST00000679851.1:n.1497-11C>T
ENST00000680021.1:n.1513-11C>T
ENST00000680043.1:c.865-11C>T
ENST00000680219.1:c.869C>T
ENST00000680243.1:c.*1092-11C>T ENSP00000505911.1:n.*1092-11C>T
ENST00000680296.1:c.739-11C>T
ENST00000680332.1:n.396-11C>T
ENST00000680746.1:c.1190-11C>T ENSP00000505030.1:n.1190-11C>T
ENST00000680751.1:n.718-11C>T
ENST00000680891.1:c.*1105-11C>T ENSP00000505167.1:n.*1105-11C>T
ENST00000680975.1:n.698-11C>T
ENST00000681087.1:n.758-11C>T
ENST00000681306.1:c.1313-11C>T ENSP00000506072.1:n.1313-11C>T
ENST00000681618.1:c.1190-11C>T ENSP00000505773.1:n.1190-11C>T
ENST00000681644.1:c.*985-11C>T ENSP00000505180.1:n.*985-11C>T
ENST00000681806.1:c.1313-11C>T ENSP00000505282.1:n.1313-11C>T
ENST00000681942.1:c.861-11C>T
ENST00000382099.2:c.1313-11C>T ENSP00000371531.2:n.1313-11C>T
ENST00000382100.7:c.1313-11C>T ENSP00000371532.2:n.1313-11C>T
NM_001018056.1:c.1313-11C>T NP_001018066.1:n.1313-11C>T
NM_003383.3:c.1313-11C>T NP_003374.3:n.1313-11C>T
XM_011518029.1:c.1190-11C>T XP_011516331.1:n.1190-11C>T
NM_001018056.2:c.1313-11C>T NP_001018066.1:n.1313-11C>T
NM_001322225.1:c.1190-11C>T NP_001309154.1:n.1190-11C>T
NM_001322226.1:c.1190-11C>T NP_001309155.1:n.1190-11C>T
NM_003383.4:c.1313-11C>T NP_003374.3:n.1313-11C>T
XR_001746373.2:n.1717-11C>T
XR_002956805.1:n.1717-11C>T
NM_003383.5:c.1313-11C>T MANE Select NP_003374.3:n.1313-11C>T
NM_001018056.3:c.1313-11C>T NP_001018066.1:n.1313-11C>T
NM_001322225.2:c.1190-11C>T NP_001309154.1:n.1190-11C>T
NM_001322226.2:c.1190-11C>T NP_001309155.1:n.1190-11C>T