Canonical Allele Identifier: CA463713058

Gene: VLDLR

Linked Data

• COSMIC: COSM118134
• MyVariant Identifiers: chr9:g.2645614C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645614C>T , CM000671.2:g.2645614C>T	GRCh38
NC_000009.11:g.2645614C>T , CM000671.1:g.2645614C>T	GRCh37
NC_000009.10:g.2635614C>T	NCBI36
NG_012741.1:g.28822C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.911C>T
ENST00000382100.8:c.1353C>T MANE Select	ENSP00000371532.2:p.Ile451=
ENST00000478776.2:n.798C>T
ENST00000679718.1:n.589C>T
ENST00000679750.1:n.769C>T
ENST00000679851.1:n.1537C>T
ENST00000680021.1:n.1553C>T
ENST00000680043.1:c.905C>T
ENST00000680219.1:c.920C>T
ENST00000680243.1:c.*1132C>T	ENSP00000505911.1:n.*1132C>T
ENST00000680296.1:c.779C>T
ENST00000680332.1:n.436C>T
ENST00000680746.1:c.1230C>T	ENSP00000505030.1:p.Ile410=
ENST00000680751.1:n.758C>T
ENST00000680891.1:c.*1145C>T	ENSP00000505167.1:n.*1145C>T
ENST00000680975.1:n.738C>T
ENST00000681087.1:n.798C>T
ENST00000681306.1:c.1353C>T	ENSP00000506072.1:p.Ile451=
ENST00000681618.1:c.1230C>T	ENSP00000505773.1:p.Ile410=
ENST00000681644.1:c.*1025C>T	ENSP00000505180.1:n.*1025C>T
ENST00000681806.1:c.1353C>T	ENSP00000505282.1:p.Ile451=
ENST00000681942.1:c.901C>T
ENST00000382099.2:c.1353C>T	ENSP00000371531.2:p.Ile451=
ENST00000382100.7:c.1353C>T	ENSP00000371532.2:p.Ile451=
NM_001018056.1:c.1353C>T	NP_001018066.1:p.Ile451=
NM_003383.3:c.1353C>T	NP_003374.3:p.Ile451=
XM_011518029.1:c.1230C>T	XP_011516331.1:p.Ile410=
NM_001018056.2:c.1353C>T	NP_001018066.1:p.Ile451=
NM_001322225.1:c.1230C>T	NP_001309154.1:p.Ile410=
NM_001322226.1:c.1230C>T	NP_001309155.1:p.Ile410=
NM_003383.4:c.1353C>T	NP_003374.3:p.Ile451=
XR_001746373.2:n.1757C>T
XR_002956805.1:n.1757C>T
NM_003383.5:c.1353C>T MANE Select	NP_003374.3:p.Ile451=
NM_001018056.3:c.1353C>T	NP_001018066.1:p.Ile451=
NM_001322225.2:c.1230C>T	NP_001309154.1:p.Ile410=
NM_001322226.2:c.1230C>T	NP_001309155.1:p.Ile410=