Canonical Allele Identifier: CA1828244259
Community Standard Title: NM_003383.5(VLDLR):c.769C= (p.Arg257=)
Gene: VLDLR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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