Canonical Allele Identifier: CA372794586

Gene: VLDLR

Linked Data

• COSMIC: COSM1232285
• MyVariant Identifiers: chr9:g.2645688C>T (hg19) ; chr9:g.2645688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645688C>T , CM000671.2:g.2645688C>T	GRCh38
NC_000009.11:g.2645688C>T , CM000671.1:g.2645688C>T	GRCh37
NC_000009.10:g.2635688C>T	NCBI36
NG_012741.1:g.28896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.985C>T
ENST00000382100.8:c.1427C>T MANE Select	ENSP00000371532.2:p.Ala476Val
ENST00000478776.2:n.872C>T
ENST00000679718.1:n.663C>T
ENST00000679750.1:n.843C>T
ENST00000679851.1:n.1611C>T
ENST00000680021.1:n.1627C>T
ENST00000680043.1:c.979C>T
ENST00000680219.1:c.994C>T
ENST00000680243.1:c.*1206C>T	ENSP00000505911.1:n.*1206C>T
ENST00000680296.1:c.853C>T
ENST00000680332.1:n.510C>T
ENST00000680746.1:c.1304C>T	ENSP00000505030.1:p.Ala435Val
ENST00000680751.1:n.832C>T
ENST00000680891.1:c.*1219C>T	ENSP00000505167.1:n.*1219C>T
ENST00000680975.1:n.812C>T
ENST00000681087.1:n.872C>T
ENST00000681306.1:c.1427C>T	ENSP00000506072.1:p.Ala476Val
ENST00000681618.1:c.1304C>T	ENSP00000505773.1:p.Ala435Val
ENST00000681644.1:c.*1099C>T	ENSP00000505180.1:n.*1099C>T
ENST00000681806.1:c.1427C>T	ENSP00000505282.1:p.Ala476Val
ENST00000681942.1:c.975C>T
ENST00000382099.2:c.1427C>T	ENSP00000371531.2:p.Ala476Val
ENST00000382100.7:c.1427C>T	ENSP00000371532.2:p.Ala476Val
NM_001018056.1:c.1427C>T	NP_001018066.1:p.Ala476Val
NM_003383.3:c.1427C>T	NP_003374.3:p.Ala476Val
XM_011518029.1:c.1304C>T	XP_011516331.1:p.Ala435Val
NM_001018056.2:c.1427C>T	NP_001018066.1:p.Ala476Val
NM_001322225.1:c.1304C>T	NP_001309154.1:p.Ala435Val
NM_001322226.1:c.1304C>T	NP_001309155.1:p.Ala435Val
NM_003383.4:c.1427C>T	NP_003374.3:p.Ala476Val
XR_001746373.2:n.1831C>T
XR_002956805.1:n.1831C>T
NM_003383.5:c.1427C>T MANE Select	NP_003374.3:p.Ala476Val
NM_001018056.3:c.1427C>T	NP_001018066.1:p.Ala476Val
NM_001322225.2:c.1304C>T	NP_001309154.1:p.Ala435Val
NM_001322226.2:c.1304C>T	NP_001309155.1:p.Ala435Val