Canonical Allele Identifier: CA372794473

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2645635G>C (hg19) ; chr9:g.2645635G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645635G>C , CM000671.2:g.2645635G>C	GRCh38
NC_000009.11:g.2645635G>C , CM000671.1:g.2645635G>C	GRCh37
NC_000009.10:g.2635635G>C	NCBI36
NG_012741.1:g.28843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.932G>C
ENST00000382100.8:c.1374G>C MANE Select	ENSP00000371532.2:p.Arg458Ser
ENST00000478776.2:n.819G>C
ENST00000679718.1:n.610G>C
ENST00000679750.1:n.790G>C
ENST00000679851.1:n.1558G>C
ENST00000680021.1:n.1574G>C
ENST00000680043.1:c.926G>C
ENST00000680219.1:c.941G>C
ENST00000680243.1:c.*1153G>C	ENSP00000505911.1:n.*1153G>C
ENST00000680296.1:c.800G>C
ENST00000680332.1:n.457G>C
ENST00000680746.1:c.1251G>C	ENSP00000505030.1:p.Arg417Ser
ENST00000680751.1:n.779G>C
ENST00000680891.1:c.*1166G>C	ENSP00000505167.1:n.*1166G>C
ENST00000680975.1:n.759G>C
ENST00000681087.1:n.819G>C
ENST00000681306.1:c.1374G>C	ENSP00000506072.1:p.Arg458Ser
ENST00000681618.1:c.1251G>C	ENSP00000505773.1:p.Arg417Ser
ENST00000681644.1:c.*1046G>C	ENSP00000505180.1:n.*1046G>C
ENST00000681806.1:c.1374G>C	ENSP00000505282.1:p.Arg458Ser
ENST00000681942.1:c.922G>C
ENST00000382099.2:c.1374G>C	ENSP00000371531.2:p.Arg458Ser
ENST00000382100.7:c.1374G>C	ENSP00000371532.2:p.Arg458Ser
NM_001018056.1:c.1374G>C	NP_001018066.1:p.Arg458Ser
NM_003383.3:c.1374G>C	NP_003374.3:p.Arg458Ser
XM_011518029.1:c.1251G>C	XP_011516331.1:p.Arg417Ser
NM_001018056.2:c.1374G>C	NP_001018066.1:p.Arg458Ser
NM_001322225.1:c.1251G>C	NP_001309154.1:p.Arg417Ser
NM_001322226.1:c.1251G>C	NP_001309155.1:p.Arg417Ser
NM_003383.4:c.1374G>C	NP_003374.3:p.Arg458Ser
XR_001746373.2:n.1778G>C
XR_002956805.1:n.1778G>C
NM_003383.5:c.1374G>C MANE Select	NP_003374.3:p.Arg458Ser
NM_001018056.3:c.1374G>C	NP_001018066.1:p.Arg458Ser
NM_001322225.2:c.1251G>C	NP_001309154.1:p.Arg417Ser
NM_001322226.2:c.1251G>C	NP_001309155.1:p.Arg417Ser