Canonical Allele Identifier: CA372787640
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2635497G>C , CM000671.2:g.2635497G>C GRCh38
NC_000009.11:g.2635497G>C , CM000671.1:g.2635497G>C GRCh37
NC_000009.10:g.2625497G>C NCBI36
NG_012741.1:g.18705G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.127G>C ENSP00000371528.2:p.Gly43Arg
ENST00000382100.8:c.127G>C MANE Select ENSP00000371532.2:p.Gly43Arg
ENST00000679851.1:n.112G>C
ENST00000680021.1:n.327G>C
ENST00000680243.1:c.127G>C ENSP00000505911.1:p.Gly43Arg
ENST00000680746.1:c.127G>C ENSP00000505030.1:p.Gly43Arg
ENST00000680891.1:c.225G>C ENSP00000505167.1:p.Met75Ile
ENST00000681306.1:c.127G>C ENSP00000506072.1:p.Gly43Arg
ENST00000681618.1:c.127G>C ENSP00000505773.1:p.Gly43Arg
ENST00000681644.1:c.225G>C ENSP00000505180.1:p.Met75Ile
ENST00000681770.1:n.115G>C
ENST00000681806.1:c.127G>C ENSP00000505282.1:p.Gly43Arg
ENST00000382096.5:c.127G>C ENSP00000371528.1:p.Gly43Arg
ENST00000382099.2:c.127G>C ENSP00000371531.2:p.Gly43Arg
ENST00000382100.7:c.127G>C ENSP00000371532.2:p.Gly43Arg
NM_001018056.1:c.127G>C NP_001018066.1:p.Gly43Arg
NM_003383.3:c.127G>C NP_003374.3:p.Gly43Arg
XM_011518029.1:c.127G>C XP_011516331.1:p.Gly43Arg
NM_001018056.2:c.127G>C NP_001018066.1:p.Gly43Arg
NM_001322225.1:c.127G>C NP_001309154.1:p.Gly43Arg
NM_001322226.1:c.127G>C NP_001309155.1:p.Gly43Arg
NM_003383.4:c.127G>C NP_003374.3:p.Gly43Arg
XR_001746373.2:n.531G>C
XR_002956805.1:n.531G>C
NM_003383.5:c.127G>C MANE Select NP_003374.3:p.Gly43Arg
NM_001018056.3:c.127G>C NP_001018066.1:p.Gly43Arg
NM_001322225.2:c.127G>C NP_001309154.1:p.Gly43Arg
NM_001322226.2:c.127G>C NP_001309155.1:p.Gly43Arg