Canonical Allele Identifier: CA862630175
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1392676679
gnomAD v3: 9-2646056-G-C
gnomAD v4: 9-2646056-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2646056G>C , CM000671.2:g.2646056G>C GRCh38
NC_000009.11:g.2646056G>C , CM000671.1:g.2646056G>C GRCh37
NC_000009.10:g.2636056G>C NCBI36
NG_012741.1:g.29264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1043-278G>C
ENST00000382100.8:c.1485-278G>C MANE Select ENSP00000371532.2:n.1485-278G>C
ENST00000478776.2:n.930-278G>C
ENST00000679718.1:n.721-278G>C
ENST00000679750.1:n.901-278G>C
ENST00000679851.1:n.1669-278G>C
ENST00000680021.1:n.1685-278G>C
ENST00000680043.1:c.1037-278G>C
ENST00000680219.1:c.1052-278G>C
ENST00000680243.1:c.*1264-278G>C ENSP00000505911.1:n.*1264-278G>C
ENST00000680296.1:c.911-278G>C
ENST00000680332.1:n.567+311G>C
ENST00000680746.1:c.1362-278G>C ENSP00000505030.1:n.1362-278G>C
ENST00000680751.1:n.890-278G>C
ENST00000680891.1:c.*1277-278G>C ENSP00000505167.1:n.*1277-278G>C
ENST00000680975.1:n.870-278G>C
ENST00000681087.1:n.930-278G>C
ENST00000681306.1:c.1485-278G>C ENSP00000506072.1:n.1485-278G>C
ENST00000681618.1:c.1362-278G>C ENSP00000505773.1:n.1362-278G>C
ENST00000681644.1:c.*1157-278G>C ENSP00000505180.1:n.*1157-278G>C
ENST00000681806.1:c.1484+311G>C ENSP00000505282.1:n.1484+311G>C
ENST00000681942.1:c.1032+311G>C
ENST00000382099.2:c.1485-278G>C ENSP00000371531.2:n.1485-278G>C
ENST00000382100.7:c.1485-278G>C ENSP00000371532.2:n.1485-278G>C
NM_001018056.1:c.1485-278G>C NP_001018066.1:n.1485-278G>C
NM_003383.3:c.1485-278G>C NP_003374.3:n.1485-278G>C
XM_011518029.1:c.1362-278G>C XP_011516331.1:n.1362-278G>C
NM_001018056.2:c.1485-278G>C NP_001018066.1:n.1485-278G>C
NM_001322225.1:c.1362-278G>C NP_001309154.1:n.1362-278G>C
NM_001322226.1:c.1362-278G>C NP_001309155.1:n.1362-278G>C
NM_003383.4:c.1485-278G>C NP_003374.3:n.1485-278G>C
XR_001746373.2:n.1888+311G>C
XR_002956805.1:n.1888+311G>C
NM_003383.5:c.1485-278G>C MANE Select NP_003374.3:n.1485-278G>C
NM_001018056.3:c.1485-278G>C NP_001018066.1:n.1485-278G>C
NM_001322225.2:c.1362-278G>C NP_001309154.1:n.1362-278G>C
NM_001322226.2:c.1362-278G>C NP_001309155.1:n.1362-278G>C