Canonical Allele Identifier: CA372795050

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2646399C>G (hg19) ; chr9:g.2646399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2646399C>G , CM000671.2:g.2646399C>G	GRCh38
NC_000009.11:g.2646399C>G , CM000671.1:g.2646399C>G	GRCh37
NC_000009.10:g.2636399C>G	NCBI36
NG_012741.1:g.29607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1108C>G
ENST00000382100.8:c.1550C>G MANE Select	ENSP00000371532.2:p.Ala517Gly
ENST00000478776.2:n.995C>G
ENST00000679718.1:n.786C>G
ENST00000679750.1:n.966C>G
ENST00000679851.1:n.1734C>G
ENST00000680021.1:n.1750C>G
ENST00000680043.1:c.1102C>G
ENST00000680219.1:c.1117C>G
ENST00000680243.1:c.*1329C>G	ENSP00000505911.1:n.*1329C>G
ENST00000680296.1:c.976C>G
ENST00000680332.1:n.568C>G
ENST00000680746.1:c.1427C>G	ENSP00000505030.1:p.Ala476Gly
ENST00000680751.1:n.955C>G
ENST00000680891.1:c.*1342C>G	ENSP00000505167.1:n.*1342C>G
ENST00000680975.1:n.935C>G
ENST00000681087.1:n.995C>G
ENST00000681306.1:c.1550C>G	ENSP00000506072.1:p.Ala517Gly
ENST00000681618.1:c.1427C>G	ENSP00000505773.1:p.Ala476Gly
ENST00000681644.1:c.*1222C>G	ENSP00000505180.1:n.*1222C>G
ENST00000681806.1:c.1485C>G	ENSP00000505282.1:p.Ser495Arg
ENST00000681942.1:c.1033C>G
ENST00000382099.2:c.1550C>G	ENSP00000371531.2:p.Ala517Gly
ENST00000382100.7:c.1550C>G	ENSP00000371532.2:p.Ala517Gly
ENST00000478776.1:n.62C>G
NM_001018056.1:c.1550C>G	NP_001018066.1:p.Ala517Gly
NM_003383.3:c.1550C>G	NP_003374.3:p.Ala517Gly
XM_011518029.1:c.1427C>G	XP_011516331.1:p.Ala476Gly
NM_001018056.2:c.1550C>G	NP_001018066.1:p.Ala517Gly
NM_001322225.1:c.1427C>G	NP_001309154.1:p.Ala476Gly
NM_001322226.1:c.1427C>G	NP_001309155.1:p.Ala476Gly
NM_003383.4:c.1550C>G	NP_003374.3:p.Ala517Gly
XR_001746373.2:n.1889C>G
XR_002956805.1:n.1889C>G
NM_003383.5:c.1550C>G MANE Select	NP_003374.3:p.Ala517Gly
NM_001018056.3:c.1550C>G	NP_001018066.1:p.Ala517Gly
NM_001322225.2:c.1427C>G	NP_001309154.1:p.Ala476Gly
NM_001322226.2:c.1427C>G	NP_001309155.1:p.Ala476Gly