Canonical Allele Identifier: CA586168483
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1181928403
gnomAD v2: 9-2650286-T-G
gnomAD v3: 9-2650286-T-G
gnomAD v4: 9-2650286-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2650286T>G , CM000671.2:g.2650286T>G GRCh38
NC_000009.11:g.2650286T>G , CM000671.1:g.2650286T>G GRCh37
NC_000009.10:g.2640286T>G NCBI36
NG_012741.1:g.33494T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1663-84T>G
ENST00000382100.8:c.2105-84T>G MANE Select ENSP00000371532.2:n.2105-84T>G
ENST00000679488.1:n.1531-84T>G
ENST00000679718.1:n.1341-84T>G
ENST00000679750.1:n.1521-84T>G
ENST00000679780.1:n.881-84T>G
ENST00000679851.1:n.2904-84T>G
ENST00000680021.1:n.2305-84T>G
ENST00000680043.1:c.1657-84T>G
ENST00000680219.1:c.1672-84T>G
ENST00000680243.1:c.*1744-84T>G ENSP00000505911.1:n.*1744-84T>G
ENST00000680296.1:c.1531-84T>G
ENST00000680332.1:n.1738-84T>G
ENST00000680440.1:n.245-84T>G
ENST00000680746.1:c.1982-84T>G ENSP00000505030.1:n.1982-84T>G
ENST00000680751.1:n.1510-84T>G
ENST00000680891.1:c.*1897-84T>G ENSP00000505167.1:n.*1897-84T>G
ENST00000680975.1:n.1490-84T>G
ENST00000681087.1:n.1410-84T>G
ENST00000681306.1:c.2105-84T>G ENSP00000506072.1:n.2105-84T>G
ENST00000681486.1:n.205-84T>G
ENST00000681618.1:c.1982-84T>G ENSP00000505773.1:n.1982-84T>G
ENST00000681644.1:c.*1777-84T>G ENSP00000505180.1:n.*1777-84T>G
ENST00000681806.1:c.*543-84T>G ENSP00000505282.1:n.*543-84T>G
ENST00000681942.1:c.1588-84T>G
ENST00000382099.2:c.2105-84T>G ENSP00000371531.2:n.2105-84T>G
ENST00000382100.7:c.2105-84T>G ENSP00000371532.2:n.2105-84T>G
NM_001018056.1:c.2105-84T>G NP_001018066.1:n.2105-84T>G
NM_003383.3:c.2105-84T>G NP_003374.3:n.2105-84T>G
XM_011518029.1:c.1982-84T>G XP_011516331.1:n.1982-84T>G
NM_001018056.2:c.2105-84T>G NP_001018066.1:n.2105-84T>G
NM_001322225.1:c.1982-84T>G NP_001309154.1:n.1982-84T>G
NM_001322226.1:c.1982-84T>G NP_001309155.1:n.1982-84T>G
NM_003383.4:c.2105-84T>G NP_003374.3:n.2105-84T>G
XR_001746373.2:n.2444-84T>G
XR_002956805.1:n.2444-84T>G
NM_003383.5:c.2105-84T>G MANE Select NP_003374.3:n.2105-84T>G
NM_001018056.3:c.2105-84T>G NP_001018066.1:n.2105-84T>G
NM_001322225.2:c.1982-84T>G NP_001309154.1:n.1982-84T>G
NM_001322226.2:c.1982-84T>G NP_001309155.1:n.1982-84T>G