Canonical Allele Identifier: CA372790372

Gene: VLDLR

Linked Data

• dbSNP Id: rs1817899603
• MyVariant Identifiers: chr9:g.2643186T>G (hg19) ; chr9:g.2643186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643186T>G , CM000671.2:g.2643186T>G	GRCh38
NC_000009.11:g.2643186T>G , CM000671.1:g.2643186T>G	GRCh37
NC_000009.10:g.2633186T>G	NCBI36
NG_012741.1:g.26394T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.27T>G
ENST00000382100.8:c.475T>G MANE Select	ENSP00000371532.2:p.Phe159Val
ENST00000679851.1:n.460T>G
ENST00000680021.1:n.675T>G
ENST00000680043.1:c.27T>G
ENST00000680219.1:c.27T>G
ENST00000680243.1:c.*254T>G	ENSP00000505911.1:n.*254T>G
ENST00000680296.1:c.27T>G
ENST00000680746.1:c.352T>G	ENSP00000505030.1:p.Phe118Val
ENST00000680891.1:c.*267T>G	ENSP00000505167.1:n.*267T>G
ENST00000681306.1:c.475T>G	ENSP00000506072.1:p.Phe159Val
ENST00000681618.1:c.352T>G	ENSP00000505773.1:p.Phe118Val
ENST00000681644.1:c.*147T>G	ENSP00000505180.1:n.*147T>G
ENST00000681806.1:c.475T>G	ENSP00000505282.1:p.Phe159Val
ENST00000681942.1:c.27T>G
ENST00000382096.5:c.352T>G	ENSP00000371528.1:p.Phe118Val
ENST00000382099.2:c.475T>G	ENSP00000371531.2:p.Phe159Val
ENST00000382100.7:c.475T>G	ENSP00000371532.2:p.Phe159Val
NM_001018056.1:c.475T>G	NP_001018066.1:p.Phe159Val
NM_003383.3:c.475T>G	NP_003374.3:p.Phe159Val
XM_011518029.1:c.352T>G	XP_011516331.1:p.Phe118Val
NM_001018056.2:c.475T>G	NP_001018066.1:p.Phe159Val
NM_001322225.1:c.352T>G	NP_001309154.1:p.Phe118Val
NM_001322226.1:c.352T>G	NP_001309155.1:p.Phe118Val
NM_003383.4:c.475T>G	NP_003374.3:p.Phe159Val
XR_001746373.2:n.879T>G
XR_002956805.1:n.879T>G
NM_003383.5:c.475T>G MANE Select	NP_003374.3:p.Phe159Val
NM_001018056.3:c.475T>G	NP_001018066.1:p.Phe159Val
NM_001322225.2:c.352T>G	NP_001309154.1:p.Phe118Val
NM_001322226.2:c.352T>G	NP_001309155.1:p.Phe118Val