Canonical Allele Identifier: CA585923832
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1166356014
gnomAD v2: 9-2635622-T-C
gnomAD v3: 9-2635622-T-C
gnomAD v4: 9-2635622-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2635622T>C , CM000671.2:g.2635622T>C GRCh38
NC_000009.11:g.2635622T>C , CM000671.1:g.2635622T>C GRCh37
NC_000009.10:g.2625622T>C NCBI36
NG_012741.1:g.18830T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.202+50T>C ENSP00000371528.2:n.202+50T>C
ENST00000382100.8:c.202+50T>C MANE Select ENSP00000371532.2:n.202+50T>C
ENST00000679851.1:n.187+50T>C
ENST00000680021.1:n.402+50T>C
ENST00000680243.1:c.202+50T>C ENSP00000505911.1:n.202+50T>C
ENST00000680746.1:c.202+50T>C ENSP00000505030.1:n.202+50T>C
ENST00000680891.1:c.300+50T>C ENSP00000505167.1:n.300+50T>C
ENST00000681306.1:c.202+50T>C ENSP00000506072.1:n.202+50T>C
ENST00000681618.1:c.202+50T>C ENSP00000505773.1:n.202+50T>C
ENST00000681644.1:c.300+50T>C ENSP00000505180.1:n.300+50T>C
ENST00000681770.1:n.190+50T>C
ENST00000681806.1:c.202+50T>C ENSP00000505282.1:n.202+50T>C
ENST00000382096.5:c.202+50T>C ENSP00000371528.1:n.202+50T>C
ENST00000382099.2:c.202+50T>C ENSP00000371531.2:n.202+50T>C
ENST00000382100.7:c.202+50T>C ENSP00000371532.2:n.202+50T>C
NM_001018056.1:c.202+50T>C NP_001018066.1:n.202+50T>C
NM_003383.3:c.202+50T>C NP_003374.3:n.202+50T>C
XM_011518029.1:c.202+50T>C XP_011516331.1:n.202+50T>C
NM_001018056.2:c.202+50T>C NP_001018066.1:n.202+50T>C
NM_001322225.1:c.202+50T>C NP_001309154.1:n.202+50T>C
NM_001322226.1:c.202+50T>C NP_001309155.1:n.202+50T>C
NM_003383.4:c.202+50T>C NP_003374.3:n.202+50T>C
XR_001746373.2:n.606+50T>C
XR_002956805.1:n.606+50T>C
NM_003383.5:c.202+50T>C MANE Select NP_003374.3:n.202+50T>C
NM_001018056.3:c.202+50T>C NP_001018066.1:n.202+50T>C
NM_001322225.2:c.202+50T>C NP_001309154.1:n.202+50T>C
NM_001322226.2:c.202+50T>C NP_001309155.1:n.202+50T>C