Canonical Allele Identifier: CA372792371

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2643883A>C (hg19) ; chr9:g.2643883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643883A>C , CM000671.2:g.2643883A>C	GRCh38
NC_000009.11:g.2643883A>C , CM000671.1:g.2643883A>C	GRCh37
NC_000009.10:g.2633883A>C	NCBI36
NG_012741.1:g.27091A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.542A>C
ENST00000382100.8:c.990A>C MANE Select	ENSP00000371532.2:p.Glu330Asp
ENST00000679851.1:n.1071A>C
ENST00000680021.1:n.1190A>C
ENST00000680043.1:c.542A>C
ENST00000680150.1:n.170A>C
ENST00000680219.1:c.542A>C
ENST00000680243.1:c.*769A>C	ENSP00000505911.1:n.*769A>C
ENST00000680296.1:c.542A>C
ENST00000680746.1:c.867A>C	ENSP00000505030.1:p.Glu289Asp
ENST00000680891.1:c.*782A>C	ENSP00000505167.1:n.*782A>C
ENST00000681306.1:c.990A>C	ENSP00000506072.1:p.Glu330Asp
ENST00000681618.1:c.867A>C	ENSP00000505773.1:p.Glu289Asp
ENST00000681644.1:c.*662A>C	ENSP00000505180.1:n.*662A>C
ENST00000681806.1:c.990A>C	ENSP00000505282.1:p.Glu330Asp
ENST00000681942.1:c.542A>C
ENST00000382099.2:c.990A>C	ENSP00000371531.2:p.Glu330Asp
ENST00000382100.7:c.990A>C	ENSP00000371532.2:p.Glu330Asp
NM_001018056.1:c.990A>C	NP_001018066.1:p.Glu330Asp
NM_003383.3:c.990A>C	NP_003374.3:p.Glu330Asp
XM_011518029.1:c.867A>C	XP_011516331.1:p.Glu289Asp
NM_001018056.2:c.990A>C	NP_001018066.1:p.Glu330Asp
NM_001322225.1:c.867A>C	NP_001309154.1:p.Glu289Asp
NM_001322226.1:c.867A>C	NP_001309155.1:p.Glu289Asp
NM_003383.4:c.990A>C	NP_003374.3:p.Glu330Asp
XR_001746373.2:n.1394A>C
XR_002956805.1:n.1394A>C
NM_003383.5:c.990A>C MANE Select	NP_003374.3:p.Glu330Asp
NM_001018056.3:c.990A>C	NP_001018066.1:p.Glu330Asp
NM_001322225.2:c.867A>C	NP_001309154.1:p.Glu289Asp
NM_001322226.2:c.867A>C	NP_001309155.1:p.Glu289Asp