Canonical Allele Identifier: CA862632095

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 2804602
• ClinVar RCV Id: RCV003684164
• dbSNP Id: rs1484582581
• gnomAD v3: 9-2647600-T-C
• gnomAD v4: 9-2647600-T-C
• MyVariant Identifiers: chr9:g.2647600T>C (hg19) ; chr9:g.2647600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647600T>C , CM000671.2:g.2647600T>C	GRCh38
NC_000009.11:g.2647600T>C , CM000671.1:g.2647600T>C	GRCh37
NC_000009.10:g.2637600T>C	NCBI36
NG_012741.1:g.30808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1380+8T>C
ENST00000382100.8:c.1822+8T>C MANE Select	ENSP00000371532.2:n.1822+8T>C
ENST00000478776.2:n.1275T>C
ENST00000679488.1:n.320T>C
ENST00000679718.1:n.1058+8T>C
ENST00000679750.1:n.1238+8T>C
ENST00000679851.1:n.2014T>C
ENST00000680021.1:n.2022+8T>C
ENST00000680043.1:c.1374+8T>C
ENST00000680219.1:c.1389+8T>C
ENST00000680243.1:c.*1601+8T>C	ENSP00000505911.1:n.*1601+8T>C
ENST00000680296.1:c.1248+8T>C
ENST00000680332.1:n.848T>C
ENST00000680746.1:c.1699+8T>C	ENSP00000505030.1:n.1699+8T>C
ENST00000680751.1:n.1227+8T>C
ENST00000680891.1:c.*1614+8T>C	ENSP00000505167.1:n.*1614+8T>C
ENST00000680975.1:n.1207+8T>C
ENST00000681087.1:n.1267+8T>C
ENST00000681306.1:c.1822+8T>C	ENSP00000506072.1:n.1822+8T>C
ENST00000681618.1:c.1699+8T>C	ENSP00000505773.1:n.1699+8T>C
ENST00000681644.1:c.*1494+8T>C	ENSP00000505180.1:n.*1494+8T>C
ENST00000681806.1:c.*260+8T>C	ENSP00000505282.1:n.*260+8T>C
ENST00000681942.1:c.1305+8T>C
ENST00000382099.2:c.1822+8T>C	ENSP00000371531.2:n.1822+8T>C
ENST00000382100.7:c.1822+8T>C	ENSP00000371532.2:n.1822+8T>C
ENST00000478776.1:n.342T>C
NM_001018056.1:c.1822+8T>C	NP_001018066.1:n.1822+8T>C
NM_003383.3:c.1822+8T>C	NP_003374.3:n.1822+8T>C
XM_011518029.1:c.1699+8T>C	XP_011516331.1:n.1699+8T>C
NM_001018056.2:c.1822+8T>C	NP_001018066.1:n.1822+8T>C
NM_001322225.1:c.1699+8T>C	NP_001309154.1:n.1699+8T>C
NM_001322226.1:c.1699+8T>C	NP_001309155.1:n.1699+8T>C
NM_003383.4:c.1822+8T>C	NP_003374.3:n.1822+8T>C
XR_001746373.2:n.2161+8T>C
XR_002956805.1:n.2161+8T>C
NM_003383.5:c.1822+8T>C MANE Select	NP_003374.3:n.1822+8T>C
NM_001018056.3:c.1822+8T>C	NP_001018066.1:n.1822+8T>C
NM_001322225.2:c.1699+8T>C	NP_001309154.1:n.1699+8T>C
NM_001322226.2:c.1699+8T>C	NP_001309155.1:n.1699+8T>C