Canonical Allele Identifier: CA1828245527

Gene: VLDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645708C= , CM000671.2:g.2645708C=	GRCh38
NC_000009.11:g.2645708C= , CM000671.1:g.2645708C=	GRCh37
NC_000009.10:g.2635708C=	NCBI36
NG_012741.1:g.28916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1005C=
ENST00000382100.8:c.1447C= MANE Select	ENSP00000371532.2:p.Leu483=
ENST00000478776.2:n.892C=
ENST00000679718.1:n.683C=
ENST00000679750.1:n.863C=
ENST00000679851.1:n.1631C=
ENST00000680021.1:n.1647C=
ENST00000680043.1:c.999C=
ENST00000680219.1:c.1014C=
ENST00000680243.1:c.*1226C=	ENSP00000505911.1:n.*1226C=
ENST00000680296.1:c.873C=
ENST00000680332.1:n.530C=
ENST00000680746.1:c.1324C=	ENSP00000505030.1:p.Leu442=
ENST00000680751.1:n.852C=
ENST00000680891.1:c.*1239C=	ENSP00000505167.1:n.*1239C=
ENST00000680975.1:n.832C=
ENST00000681087.1:n.892C=
ENST00000681306.1:c.1447C=	ENSP00000506072.1:p.Leu483=
ENST00000681618.1:c.1324C=	ENSP00000505773.1:p.Leu442=
ENST00000681644.1:c.*1119C=	ENSP00000505180.1:n.*1119C=
ENST00000681806.1:c.1447C=	ENSP00000505282.1:p.Leu483=
ENST00000681942.1:c.995C=
ENST00000382099.2:c.1447C=	ENSP00000371531.2:p.Leu483=
ENST00000382100.7:c.1447C=	ENSP00000371532.2:p.Leu483=
NM_001018056.1:c.1447C=	NP_001018066.1:p.Leu483=
NM_003383.3:c.1447C=	NP_003374.3:p.Leu483=
XM_011518029.1:c.1324C=	XP_011516331.1:p.Leu442=
NM_001018056.2:c.1447C=	NP_001018066.1:p.Leu483=
NM_001322225.1:c.1324C=	NP_001309154.1:p.Leu442=
NM_001322226.1:c.1324C=	NP_001309155.1:p.Leu442=
NM_003383.4:c.1447C=	NP_003374.3:p.Leu483=
XR_001746373.2:n.1851C=
XR_002956805.1:n.1851C=
NM_003383.5:c.1447C= MANE Select	NP_003374.3:p.Leu483=
NM_001018056.3:c.1447C=	NP_001018066.1:p.Leu483=
NM_001322225.2:c.1324C=	NP_001309154.1:p.Leu442=
NM_001322226.2:c.1324C=	NP_001309155.1:p.Leu442=