Canonical Allele Identifier: CA2689254127
Gene: VLDLR HGNC NCBI
VLDLR-AS1 HGNC NCBI

Linked Data

gnomAD v4: 9-2621994-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2621994A>C , CM000671.2:g.2621994A>C GRCh38
NC_000009.11:g.2621994A>C , CM000671.1:g.2621994A>C GRCh37
NC_000009.10:g.2611994A>C NCBI36
NG_012741.1:g.5202A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382096.6:c.-70-126A>C (VLDLR) ENSP00000371528.2:n.-70-126A>C
ENST00000382100.8:c.-196A>C (VLDLR) MANE Select ENSP00000371532.2:n.-196A>C
ENST00000680746.1:c.-196A>C (VLDLR) ENSP00000505030.1:n.-196A>C
ENST00000680891.1:c.-196A>C (VLDLR) ENSP00000505167.1:n.-196A>C
ENST00000681644.1:c.-196A>C (VLDLR) ENSP00000505180.1:n.-196A>C
ENST00000382096.5:c.-196A>C (VLDLR) ENSP00000371528.1:n.-196A>C
ENST00000382100.7:c.-196A>C (VLDLR) ENSP00000371532.2:n.-196A>C
NM_001018056.1:c.-196A>C (VLDLR) NP_001018066.1:n.-196A>C
NM_003383.3:c.-196A>C (VLDLR) NP_003374.3:n.-196A>C
NR_015375.2:n.274+106T>G (VLDLR-AS1)
XM_011518029.1:c.-196A>C (VLDLR) XP_011516331.1:n.-196A>C
NM_001018056.2:c.-196A>C (VLDLR) NP_001018066.1:n.-196A>C
NM_001322225.1:c.-196A>C (VLDLR) NP_001309154.1:n.-196A>C
NM_001322226.1:c.-196A>C (VLDLR) NP_001309155.1:n.-196A>C
NM_003383.4:c.-196A>C (VLDLR) NP_003374.3:n.-196A>C
XR_001746373.2:n.209A>C (VLDLR)
XR_002956805.1:n.209A>C (VLDLR)
NM_003383.5:c.-196A>C (VLDLR) MANE Select NP_003374.3:n.-196A>C
NM_001018056.3:c.-196A>C (VLDLR) NP_001018066.1:n.-196A>C
NM_001322225.2:c.-196A>C (VLDLR) NP_001309154.1:n.-196A>C
NM_001322226.2:c.-196A>C (VLDLR) NP_001309155.1:n.-196A>C