Canonical Allele Identifier: CA372797132

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2647590-T-G
• MyVariant Identifiers: chr9:g.2647590T>G (hg19) ; chr9:g.2647590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647590T>G , CM000671.2:g.2647590T>G	GRCh38
NC_000009.11:g.2647590T>G , CM000671.1:g.2647590T>G	GRCh37
NC_000009.10:g.2637590T>G	NCBI36
NG_012741.1:g.30798T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1378T>G
ENST00000382100.8:c.1820T>G MANE Select	ENSP00000371532.2:p.Leu607Arg
ENST00000478776.2:n.1265T>G
ENST00000679488.1:n.310T>G
ENST00000679718.1:n.1056T>G
ENST00000679750.1:n.1236T>G
ENST00000679851.1:n.2004T>G
ENST00000680021.1:n.2020T>G
ENST00000680043.1:c.1372T>G
ENST00000680219.1:c.1387T>G
ENST00000680243.1:c.*1599T>G	ENSP00000505911.1:n.*1599T>G
ENST00000680296.1:c.1246T>G
ENST00000680332.1:n.838T>G
ENST00000680746.1:c.1697T>G	ENSP00000505030.1:p.Leu566Arg
ENST00000680751.1:n.1225T>G
ENST00000680891.1:c.*1612T>G	ENSP00000505167.1:n.*1612T>G
ENST00000680975.1:n.1205T>G
ENST00000681087.1:n.1265T>G
ENST00000681306.1:c.1820T>G	ENSP00000506072.1:p.Leu607Arg
ENST00000681618.1:c.1697T>G	ENSP00000505773.1:p.Leu566Arg
ENST00000681644.1:c.*1492T>G	ENSP00000505180.1:n.*1492T>G
ENST00000681806.1:c.*258T>G	ENSP00000505282.1:n.*258T>G
ENST00000681942.1:c.1303T>G
ENST00000382099.2:c.1820T>G	ENSP00000371531.2:p.Leu607Arg
ENST00000382100.7:c.1820T>G	ENSP00000371532.2:p.Leu607Arg
ENST00000478776.1:n.332T>G
NM_001018056.1:c.1820T>G	NP_001018066.1:p.Leu607Arg
NM_003383.3:c.1820T>G	NP_003374.3:p.Leu607Arg
XM_011518029.1:c.1697T>G	XP_011516331.1:p.Leu566Arg
NM_001018056.2:c.1820T>G	NP_001018066.1:p.Leu607Arg
NM_001322225.1:c.1697T>G	NP_001309154.1:p.Leu566Arg
NM_001322226.1:c.1697T>G	NP_001309155.1:p.Leu566Arg
NM_003383.4:c.1820T>G	NP_003374.3:p.Leu607Arg
XR_001746373.2:n.2159T>G
XR_002956805.1:n.2159T>G
NM_003383.5:c.1820T>G MANE Select	NP_003374.3:p.Leu607Arg
NM_001018056.3:c.1820T>G	NP_001018066.1:p.Leu607Arg
NM_001322225.2:c.1697T>G	NP_001309154.1:p.Leu566Arg
NM_001322226.2:c.1697T>G	NP_001309155.1:p.Leu566Arg