Canonical Allele Identifier: CA372794404

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2645612A>T (hg19) ; chr9:g.2645612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645612A>T , CM000671.2:g.2645612A>T	GRCh38
NC_000009.11:g.2645612A>T , CM000671.1:g.2645612A>T	GRCh37
NC_000009.10:g.2635612A>T	NCBI36
NG_012741.1:g.28820A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.909A>T
ENST00000382100.8:c.1351A>T MANE Select	ENSP00000371532.2:p.Ile451Phe
ENST00000478776.2:n.796A>T
ENST00000679718.1:n.587A>T
ENST00000679750.1:n.767A>T
ENST00000679851.1:n.1535A>T
ENST00000680021.1:n.1551A>T
ENST00000680043.1:c.903A>T
ENST00000680219.1:c.918A>T
ENST00000680243.1:c.*1130A>T	ENSP00000505911.1:n.*1130A>T
ENST00000680296.1:c.777A>T
ENST00000680332.1:n.434A>T
ENST00000680746.1:c.1228A>T	ENSP00000505030.1:p.Ile410Phe
ENST00000680751.1:n.756A>T
ENST00000680891.1:c.*1143A>T	ENSP00000505167.1:n.*1143A>T
ENST00000680975.1:n.736A>T
ENST00000681087.1:n.796A>T
ENST00000681306.1:c.1351A>T	ENSP00000506072.1:p.Ile451Phe
ENST00000681618.1:c.1228A>T	ENSP00000505773.1:p.Ile410Phe
ENST00000681644.1:c.*1023A>T	ENSP00000505180.1:n.*1023A>T
ENST00000681806.1:c.1351A>T	ENSP00000505282.1:p.Ile451Phe
ENST00000681942.1:c.899A>T
ENST00000382099.2:c.1351A>T	ENSP00000371531.2:p.Ile451Phe
ENST00000382100.7:c.1351A>T	ENSP00000371532.2:p.Ile451Phe
NM_001018056.1:c.1351A>T	NP_001018066.1:p.Ile451Phe
NM_003383.3:c.1351A>T	NP_003374.3:p.Ile451Phe
XM_011518029.1:c.1228A>T	XP_011516331.1:p.Ile410Phe
NM_001018056.2:c.1351A>T	NP_001018066.1:p.Ile451Phe
NM_001322225.1:c.1228A>T	NP_001309154.1:p.Ile410Phe
NM_001322226.1:c.1228A>T	NP_001309155.1:p.Ile410Phe
NM_003383.4:c.1351A>T	NP_003374.3:p.Ile451Phe
XR_001746373.2:n.1755A>T
XR_002956805.1:n.1755A>T
NM_003383.5:c.1351A>T MANE Select	NP_003374.3:p.Ile451Phe
NM_001018056.3:c.1351A>T	NP_001018066.1:p.Ile451Phe
NM_001322225.2:c.1228A>T	NP_001309154.1:p.Ile410Phe
NM_001322226.2:c.1228A>T	NP_001309155.1:p.Ile410Phe