Canonical Allele Identifier: CA4964400
Gene: VLDLR HGNC NCBI
VLDLR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs745830344
gnomAD v2: 9-2622269-C-G
gnomAD v3: 9-2622269-C-G
gnomAD v4: 9-2622269-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2622269C>G , CM000671.2:g.2622269C>G GRCh38
NC_000009.11:g.2622269C>G , CM000671.1:g.2622269C>G GRCh37
NC_000009.10:g.2612269C>G NCBI36
NG_012741.1:g.5477C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382096.6:c.80C>G (VLDLR) ENSP00000371528.2:p.Thr27Ser
ENST00000382100.8:c.80C>G (VLDLR) MANE Select ENSP00000371532.2:p.Thr27Ser
ENST00000679851.1:n.65C>G (VLDLR)
ENST00000680243.1:c.80C>G (VLDLR) ENSP00000505911.1:p.Thr27Ser
ENST00000680746.1:c.80C>G (VLDLR) ENSP00000505030.1:p.Thr27Ser
ENST00000680891.1:c.80C>G (VLDLR) ENSP00000505167.1:p.Thr27Ser
ENST00000681306.1:c.80C>G (VLDLR) ENSP00000506072.1:p.Thr27Ser
ENST00000681618.1:c.80C>G (VLDLR) ENSP00000505773.1:p.Thr27Ser
ENST00000681644.1:c.80C>G (VLDLR) ENSP00000505180.1:p.Thr27Ser
ENST00000681770.1:n.68C>G (VLDLR)
ENST00000681806.1:c.80C>G (VLDLR) ENSP00000505282.1:p.Thr27Ser
ENST00000382096.5:c.80C>G (VLDLR) ENSP00000371528.1:p.Thr27Ser
ENST00000382099.2:c.80C>G (VLDLR) ENSP00000371531.2:p.Thr27Ser
ENST00000382100.7:c.80C>G (VLDLR) ENSP00000371532.2:p.Thr27Ser
NM_001018056.1:c.80C>G (VLDLR) NP_001018066.1:p.Thr27Ser
NM_003383.3:c.80C>G (VLDLR) NP_003374.3:p.Thr27Ser
NR_015375.2:n.105G>C (VLDLR-AS1)
XM_011518029.1:c.80C>G (VLDLR) XP_011516331.1:p.Thr27Ser
NM_001018056.2:c.80C>G (VLDLR) NP_001018066.1:p.Thr27Ser
NM_001322225.1:c.80C>G (VLDLR) NP_001309154.1:p.Thr27Ser
NM_001322226.1:c.80C>G (VLDLR) NP_001309155.1:p.Thr27Ser
NM_003383.4:c.80C>G (VLDLR) NP_003374.3:p.Thr27Ser
XR_001746373.2:n.484C>G (VLDLR)
XR_002956805.1:n.484C>G (VLDLR)
NM_003383.5:c.80C>G (VLDLR) MANE Select NP_003374.3:p.Thr27Ser
NM_001018056.3:c.80C>G (VLDLR) NP_001018066.1:p.Thr27Ser
NM_001322225.2:c.80C>G (VLDLR) NP_001309154.1:p.Thr27Ser
NM_001322226.2:c.80C>G (VLDLR) NP_001309155.1:p.Thr27Ser