Canonical Allele Identifier: CA372799951

Gene: VLDLR

Linked Data

• dbSNP Id: rs763686863
• gnomAD v2: 9-2650394-T-G
• MyVariant Identifiers: chr9:g.2650394T>G (hg19) ; chr9:g.2650394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2650394T>G , CM000671.2:g.2650394T>G	GRCh38
NC_000009.11:g.2650394T>G , CM000671.1:g.2650394T>G	GRCh37
NC_000009.10:g.2640394T>G	NCBI36
NG_012741.1:g.33602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1687T>G
ENST00000382100.8:c.2129T>G MANE Select	ENSP00000371532.2:p.Met710Arg
ENST00000679488.1:n.1555T>G
ENST00000679718.1:n.1365T>G
ENST00000679750.1:n.1545T>G
ENST00000679780.1:n.905T>G
ENST00000679851.1:n.2928T>G
ENST00000680021.1:n.2329T>G
ENST00000680043.1:c.1681T>G
ENST00000680219.1:c.1696T>G
ENST00000680243.1:c.*1768T>G	ENSP00000505911.1:n.*1768T>G
ENST00000680296.1:c.1555T>G
ENST00000680332.1:n.1762T>G
ENST00000680440.1:n.269T>G
ENST00000680746.1:c.2006T>G	ENSP00000505030.1:p.Met669Arg
ENST00000680751.1:n.1534T>G
ENST00000680891.1:c.*1921T>G	ENSP00000505167.1:n.*1921T>G
ENST00000680975.1:n.1514T>G
ENST00000681087.1:n.1434T>G
ENST00000681306.1:c.2129T>G	ENSP00000506072.1:p.Met710Arg
ENST00000681486.1:n.229T>G
ENST00000681618.1:c.2006T>G	ENSP00000505773.1:p.Met669Arg
ENST00000681644.1:c.*1801T>G	ENSP00000505180.1:n.*1801T>G
ENST00000681806.1:c.*567T>G	ENSP00000505282.1:n.*567T>G
ENST00000681942.1:c.1612T>G
ENST00000382099.2:c.2129T>G	ENSP00000371531.2:p.Met710Arg
ENST00000382100.7:c.2129T>G	ENSP00000371532.2:p.Met710Arg
NM_001018056.1:c.2129T>G	NP_001018066.1:p.Met710Arg
NM_003383.3:c.2129T>G	NP_003374.3:p.Met710Arg
XM_011518029.1:c.2006T>G	XP_011516331.1:p.Met669Arg
NM_001018056.2:c.2129T>G	NP_001018066.1:p.Met710Arg
NM_001322225.1:c.2006T>G	NP_001309154.1:p.Met669Arg
NM_001322226.1:c.2006T>G	NP_001309155.1:p.Met669Arg
NM_003383.4:c.2129T>G	NP_003374.3:p.Met710Arg
XR_001746373.2:n.2468T>G
XR_002956805.1:n.2468T>G
NM_003383.5:c.2129T>G MANE Select	NP_003374.3:p.Met710Arg
NM_001018056.3:c.2129T>G	NP_001018066.1:p.Met710Arg
NM_001322225.2:c.2006T>G	NP_001309154.1:p.Met669Arg
NM_001322226.2:c.2006T>G	NP_001309155.1:p.Met669Arg