Canonical Allele Identifier: CA4964829

Gene: VLDLR

Linked Data

• dbSNP Id: rs750530832
• ExAC: 9:2645695 T / G
• gnomAD v2: 9-2645695-T-G
• gnomAD v3: 9-2645695-T-G
• gnomAD v4: 9-2645695-T-G
• MyVariant Identifiers: chr9:g.2645695T>G (hg19) ; chr9:g.2645695T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645695T>G , CM000671.2:g.2645695T>G	GRCh38
NC_000009.11:g.2645695T>G , CM000671.1:g.2645695T>G	GRCh37
NC_000009.10:g.2635695T>G	NCBI36
NG_012741.1:g.28903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.992T>G
ENST00000382100.8:c.1434T>G MANE Select	ENSP00000371532.2:p.Ile478Met
ENST00000478776.2:n.879T>G
ENST00000679718.1:n.670T>G
ENST00000679750.1:n.850T>G
ENST00000679851.1:n.1618T>G
ENST00000680021.1:n.1634T>G
ENST00000680043.1:c.986T>G
ENST00000680219.1:c.1001T>G
ENST00000680243.1:c.*1213T>G	ENSP00000505911.1:n.*1213T>G
ENST00000680296.1:c.860T>G
ENST00000680332.1:n.517T>G
ENST00000680746.1:c.1311T>G	ENSP00000505030.1:p.Ile437Met
ENST00000680751.1:n.839T>G
ENST00000680891.1:c.*1226T>G	ENSP00000505167.1:n.*1226T>G
ENST00000680975.1:n.819T>G
ENST00000681087.1:n.879T>G
ENST00000681306.1:c.1434T>G	ENSP00000506072.1:p.Ile478Met
ENST00000681618.1:c.1311T>G	ENSP00000505773.1:p.Ile437Met
ENST00000681644.1:c.*1106T>G	ENSP00000505180.1:n.*1106T>G
ENST00000681806.1:c.1434T>G	ENSP00000505282.1:p.Ile478Met
ENST00000681942.1:c.982T>G
ENST00000382099.2:c.1434T>G	ENSP00000371531.2:p.Ile478Met
ENST00000382100.7:c.1434T>G	ENSP00000371532.2:p.Ile478Met
NM_001018056.1:c.1434T>G	NP_001018066.1:p.Ile478Met
NM_003383.3:c.1434T>G	NP_003374.3:p.Ile478Met
XM_011518029.1:c.1311T>G	XP_011516331.1:p.Ile437Met
NM_001018056.2:c.1434T>G	NP_001018066.1:p.Ile478Met
NM_001322225.1:c.1311T>G	NP_001309154.1:p.Ile437Met
NM_001322226.1:c.1311T>G	NP_001309155.1:p.Ile437Met
NM_003383.4:c.1434T>G	NP_003374.3:p.Ile478Met
XR_001746373.2:n.1838T>G
XR_002956805.1:n.1838T>G
NM_003383.5:c.1434T>G MANE Select	NP_003374.3:p.Ile478Met
NM_001018056.3:c.1434T>G	NP_001018066.1:p.Ile478Met
NM_001322225.2:c.1311T>G	NP_001309154.1:p.Ile437Met
NM_001322226.2:c.1311T>G	NP_001309155.1:p.Ile437Met