Canonical Allele Identifier: CA155907

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 130700
• ClinVar RCV Id: RCV000118814 ; RCV000882448
• dbSNP Id: rs34080096
• ExAC: 9:2643175 G / C
• gnomAD v2: 9-2643175-G-C
• gnomAD v3: 9-2643175-G-C
• gnomAD v4: 9-2643175-G-C
• MyVariant Identifiers: chr9:g.2643175G>C (hg19) ; chr9:g.2643175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643175G>C , CM000671.2:g.2643175G>C	GRCh38
NC_000009.11:g.2643175G>C , CM000671.1:g.2643175G>C	GRCh37
NC_000009.10:g.2633175G>C	NCBI36
NG_012741.1:g.26383G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.16G>C
ENST00000382100.8:c.464G>C MANE Select	ENSP00000371532.2:p.Ser155Thr
ENST00000679851.1:n.449G>C
ENST00000680021.1:n.664G>C
ENST00000680043.1:c.16G>C
ENST00000680219.1:c.16G>C
ENST00000680243.1:c.*243G>C	ENSP00000505911.1:n.*243G>C
ENST00000680296.1:c.16G>C
ENST00000680746.1:c.341G>C	ENSP00000505030.1:p.Ser114Thr
ENST00000680891.1:c.*256G>C	ENSP00000505167.1:n.*256G>C
ENST00000681306.1:c.464G>C	ENSP00000506072.1:p.Ser155Thr
ENST00000681618.1:c.341G>C	ENSP00000505773.1:p.Ser114Thr
ENST00000681644.1:c.*136G>C	ENSP00000505180.1:n.*136G>C
ENST00000681806.1:c.464G>C	ENSP00000505282.1:p.Ser155Thr
ENST00000681942.1:c.16G>C
ENST00000382096.5:c.341G>C	ENSP00000371528.1:p.Ser114Thr
ENST00000382099.2:c.464G>C	ENSP00000371531.2:p.Ser155Thr
ENST00000382100.7:c.464G>C	ENSP00000371532.2:p.Ser155Thr
NM_001018056.1:c.464G>C	NP_001018066.1:p.Ser155Thr
NM_003383.3:c.464G>C	NP_003374.3:p.Ser155Thr
XM_011518029.1:c.341G>C	XP_011516331.1:p.Ser114Thr
NM_001018056.2:c.464G>C	NP_001018066.1:p.Ser155Thr
NM_001322225.1:c.341G>C	NP_001309154.1:p.Ser114Thr
NM_001322226.1:c.341G>C	NP_001309155.1:p.Ser114Thr
NM_003383.4:c.464G>C	NP_003374.3:p.Ser155Thr
XR_001746373.2:n.868G>C
XR_002956805.1:n.868G>C
NM_003383.5:c.464G>C MANE Select	NP_003374.3:p.Ser155Thr
NM_001018056.3:c.464G>C	NP_001018066.1:p.Ser155Thr
NM_001322225.2:c.341G>C	NP_001309154.1:p.Ser114Thr
NM_001322226.2:c.341G>C	NP_001309155.1:p.Ser114Thr