Canonical Allele Identifier: CA372794361
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645600A>C , CM000671.2:g.2645600A>C GRCh38
NC_000009.11:g.2645600A>C , CM000671.1:g.2645600A>C GRCh37
NC_000009.10:g.2635600A>C NCBI36
NG_012741.1:g.28808A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.897A>C
ENST00000382100.8:c.1339A>C MANE Select ENSP00000371532.2:p.Asn447His
ENST00000478776.2:n.784A>C
ENST00000679718.1:n.575A>C
ENST00000679750.1:n.755A>C
ENST00000679851.1:n.1523A>C
ENST00000680021.1:n.1539A>C
ENST00000680043.1:c.891A>C
ENST00000680219.1:c.906A>C
ENST00000680243.1:c.*1118A>C ENSP00000505911.1:n.*1118A>C
ENST00000680296.1:c.765A>C
ENST00000680332.1:n.422A>C
ENST00000680746.1:c.1216A>C ENSP00000505030.1:p.Asn406His
ENST00000680751.1:n.744A>C
ENST00000680891.1:c.*1131A>C ENSP00000505167.1:n.*1131A>C
ENST00000680975.1:n.724A>C
ENST00000681087.1:n.784A>C
ENST00000681306.1:c.1339A>C ENSP00000506072.1:p.Asn447His
ENST00000681618.1:c.1216A>C ENSP00000505773.1:p.Asn406His
ENST00000681644.1:c.*1011A>C ENSP00000505180.1:n.*1011A>C
ENST00000681806.1:c.1339A>C ENSP00000505282.1:p.Asn447His
ENST00000681942.1:c.887A>C
ENST00000382099.2:c.1339A>C ENSP00000371531.2:p.Asn447His
ENST00000382100.7:c.1339A>C ENSP00000371532.2:p.Asn447His
NM_001018056.1:c.1339A>C NP_001018066.1:p.Asn447His
NM_003383.3:c.1339A>C NP_003374.3:p.Asn447His
XM_011518029.1:c.1216A>C XP_011516331.1:p.Asn406His
NM_001018056.2:c.1339A>C NP_001018066.1:p.Asn447His
NM_001322225.1:c.1216A>C NP_001309154.1:p.Asn406His
NM_001322226.1:c.1216A>C NP_001309155.1:p.Asn406His
NM_003383.4:c.1339A>C NP_003374.3:p.Asn447His
XR_001746373.2:n.1743A>C
XR_002956805.1:n.1743A>C
NM_003383.5:c.1339A>C MANE Select NP_003374.3:p.Asn447His
NM_001018056.3:c.1339A>C NP_001018066.1:p.Asn447His
NM_001322225.2:c.1216A>C NP_001309154.1:p.Asn406His
NM_001322226.2:c.1216A>C NP_001309155.1:p.Asn406His