Canonical Allele Identifier: CA372797119

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2647584T>G (hg19) ; chr9:g.2647584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647584T>G , CM000671.2:g.2647584T>G	GRCh38
NC_000009.11:g.2647584T>G , CM000671.1:g.2647584T>G	GRCh37
NC_000009.10:g.2637584T>G	NCBI36
NG_012741.1:g.30792T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1372T>G
ENST00000382100.8:c.1814T>G MANE Select	ENSP00000371532.2:p.Ile605Ser
ENST00000478776.2:n.1259T>G
ENST00000679488.1:n.304T>G
ENST00000679718.1:n.1050T>G
ENST00000679750.1:n.1230T>G
ENST00000679851.1:n.1998T>G
ENST00000680021.1:n.2014T>G
ENST00000680043.1:c.1366T>G
ENST00000680219.1:c.1381T>G
ENST00000680243.1:c.*1593T>G	ENSP00000505911.1:n.*1593T>G
ENST00000680296.1:c.1240T>G
ENST00000680332.1:n.832T>G
ENST00000680746.1:c.1691T>G	ENSP00000505030.1:p.Ile564Ser
ENST00000680751.1:n.1219T>G
ENST00000680891.1:c.*1606T>G	ENSP00000505167.1:n.*1606T>G
ENST00000680975.1:n.1199T>G
ENST00000681087.1:n.1259T>G
ENST00000681306.1:c.1814T>G	ENSP00000506072.1:p.Ile605Ser
ENST00000681618.1:c.1691T>G	ENSP00000505773.1:p.Ile564Ser
ENST00000681644.1:c.*1486T>G	ENSP00000505180.1:n.*1486T>G
ENST00000681806.1:c.*252T>G	ENSP00000505282.1:n.*252T>G
ENST00000681942.1:c.1297T>G
ENST00000382099.2:c.1814T>G	ENSP00000371531.2:p.Ile605Ser
ENST00000382100.7:c.1814T>G	ENSP00000371532.2:p.Ile605Ser
ENST00000478776.1:n.326T>G
NM_001018056.1:c.1814T>G	NP_001018066.1:p.Ile605Ser
NM_003383.3:c.1814T>G	NP_003374.3:p.Ile605Ser
XM_011518029.1:c.1691T>G	XP_011516331.1:p.Ile564Ser
NM_001018056.2:c.1814T>G	NP_001018066.1:p.Ile605Ser
NM_001322225.1:c.1691T>G	NP_001309154.1:p.Ile564Ser
NM_001322226.1:c.1691T>G	NP_001309155.1:p.Ile564Ser
NM_003383.4:c.1814T>G	NP_003374.3:p.Ile605Ser
XR_001746373.2:n.2153T>G
XR_002956805.1:n.2153T>G
NM_003383.5:c.1814T>G MANE Select	NP_003374.3:p.Ile605Ser
NM_001018056.3:c.1814T>G	NP_001018066.1:p.Ile605Ser
NM_001322225.2:c.1691T>G	NP_001309154.1:p.Ile564Ser
NM_001322226.2:c.1691T>G	NP_001309155.1:p.Ile564Ser