Canonical Allele Identifier: CA372794712

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 1219774
• ClinVar RCV Id: RCV001590449
• dbSNP Id: rs1415296692
• MyVariant Identifiers: chr9:g.2645745G>C (hg19) ; chr9:g.2645745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645745G>C , CM000671.2:g.2645745G>C	GRCh38
NC_000009.11:g.2645745G>C , CM000671.1:g.2645745G>C	GRCh37
NC_000009.10:g.2635745G>C	NCBI36
NG_012741.1:g.28953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1042G>C
ENST00000382100.8:c.1484G>C MANE Select	ENSP00000371532.2:p.Ser495Thr
ENST00000478776.2:n.929G>C
ENST00000679718.1:n.720G>C
ENST00000679750.1:n.900G>C
ENST00000679851.1:n.1668G>C
ENST00000680021.1:n.1684G>C
ENST00000680043.1:c.1036G>C
ENST00000680219.1:c.1051G>C
ENST00000680243.1:c.*1263G>C	ENSP00000505911.1:n.*1263G>C
ENST00000680296.1:c.910G>C
ENST00000680332.1:n.567G>C
ENST00000680746.1:c.1361G>C	ENSP00000505030.1:p.Ser454Thr
ENST00000680751.1:n.889G>C
ENST00000680891.1:c.*1276G>C	ENSP00000505167.1:n.*1276G>C
ENST00000680975.1:n.869G>C
ENST00000681087.1:n.929G>C
ENST00000681306.1:c.1484G>C	ENSP00000506072.1:p.Ser495Thr
ENST00000681618.1:c.1361G>C	ENSP00000505773.1:p.Ser454Thr
ENST00000681644.1:c.*1156G>C	ENSP00000505180.1:n.*1156G>C
ENST00000681806.1:c.1484G>C	ENSP00000505282.1:p.Ser495Thr
ENST00000681942.1:c.1032G>C
ENST00000382099.2:c.1484G>C	ENSP00000371531.2:p.Ser495Thr
ENST00000382100.7:c.1484G>C	ENSP00000371532.2:p.Ser495Thr
NM_001018056.1:c.1484G>C	NP_001018066.1:p.Ser495Thr
NM_003383.3:c.1484G>C	NP_003374.3:p.Ser495Thr
XM_011518029.1:c.1361G>C	XP_011516331.1:p.Ser454Thr
NM_001018056.2:c.1484G>C	NP_001018066.1:p.Ser495Thr
NM_001322225.1:c.1361G>C	NP_001309154.1:p.Ser454Thr
NM_001322226.1:c.1361G>C	NP_001309155.1:p.Ser454Thr
NM_003383.4:c.1484G>C	NP_003374.3:p.Ser495Thr
XR_001746373.2:n.1888G>C
XR_002956805.1:n.1888G>C
NM_003383.5:c.1484G>C MANE Select	NP_003374.3:p.Ser495Thr
NM_001018056.3:c.1484G>C	NP_001018066.1:p.Ser495Thr
NM_001322225.2:c.1361G>C	NP_001309154.1:p.Ser454Thr
NM_001322226.2:c.1361G>C	NP_001309155.1:p.Ser454Thr