Canonical Allele Identifier: CA463853020
Gene: VLDLR HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2643480C>A , CM000671.2:g.2643480C>A GRCh38
NC_000009.11:g.2643480C>A , CM000671.1:g.2643480C>A GRCh37
NC_000009.10:g.2633480C>A NCBI36
NG_012741.1:g.26688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.321C>A
ENST00000382100.8:c.769C>A MANE Select ENSP00000371532.2:p.Arg257=
ENST00000679851.1:n.754C>A
ENST00000680021.1:n.969C>A
ENST00000680043.1:c.321C>A
ENST00000680219.1:c.321C>A
ENST00000680243.1:c.*548C>A ENSP00000505911.1:n.*548C>A
ENST00000680296.1:c.321C>A
ENST00000680746.1:c.646C>A ENSP00000505030.1:p.Arg216=
ENST00000680891.1:c.*561C>A ENSP00000505167.1:n.*561C>A
ENST00000681306.1:c.769C>A ENSP00000506072.1:p.Arg257=
ENST00000681618.1:c.646C>A ENSP00000505773.1:p.Arg216=
ENST00000681644.1:c.*441C>A ENSP00000505180.1:n.*441C>A
ENST00000681806.1:c.769C>A ENSP00000505282.1:p.Arg257=
ENST00000681942.1:c.321C>A
ENST00000382099.2:c.769C>A ENSP00000371531.2:p.Arg257=
ENST00000382100.7:c.769C>A ENSP00000371532.2:p.Arg257=
NM_001018056.1:c.769C>A NP_001018066.1:p.Arg257=
NM_003383.3:c.769C>A NP_003374.3:p.Arg257=
XM_011518029.1:c.646C>A XP_011516331.1:p.Arg216=
NM_001018056.2:c.769C>A NP_001018066.1:p.Arg257=
NM_001322225.1:c.646C>A NP_001309154.1:p.Arg216=
NM_001322226.1:c.646C>A NP_001309155.1:p.Arg216=
NM_003383.4:c.769C>A NP_003374.3:p.Arg257=
XR_001746373.2:n.1173C>A
XR_002956805.1:n.1173C>A
NM_003383.5:c.769C>A MANE Select NP_003374.3:p.Arg257=
NM_001018056.3:c.769C>A NP_001018066.1:p.Arg257=
NM_001322225.2:c.646C>A NP_001309154.1:p.Arg216=
NM_001322226.2:c.646C>A NP_001309155.1:p.Arg216=