Canonical Allele Identifier: CA372795254

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2646436G>T (hg19) ; chr9:g.2646436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2646436G>T , CM000671.2:g.2646436G>T	GRCh38
NC_000009.11:g.2646436G>T , CM000671.1:g.2646436G>T	GRCh37
NC_000009.10:g.2636436G>T	NCBI36
NG_012741.1:g.29644G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1145G>T
ENST00000382100.8:c.1587G>T MANE Select	ENSP00000371532.2:p.Trp529Cys
ENST00000478776.2:n.1032G>T
ENST00000679718.1:n.823G>T
ENST00000679750.1:n.1003G>T
ENST00000679851.1:n.1771G>T
ENST00000680021.1:n.1787G>T
ENST00000680043.1:c.1139G>T
ENST00000680219.1:c.1154G>T
ENST00000680243.1:c.*1366G>T	ENSP00000505911.1:n.*1366G>T
ENST00000680296.1:c.1013G>T
ENST00000680332.1:n.605G>T
ENST00000680746.1:c.1464G>T	ENSP00000505030.1:p.Trp488Cys
ENST00000680751.1:n.992G>T
ENST00000680891.1:c.*1379G>T	ENSP00000505167.1:n.*1379G>T
ENST00000680975.1:n.972G>T
ENST00000681087.1:n.1032G>T
ENST00000681306.1:c.1587G>T	ENSP00000506072.1:p.Trp529Cys
ENST00000681618.1:c.1464G>T	ENSP00000505773.1:p.Trp488Cys
ENST00000681644.1:c.*1259G>T	ENSP00000505180.1:n.*1259G>T
ENST00000681806.1:c.*25G>T	ENSP00000505282.1:n.*25G>T
ENST00000681942.1:c.1070G>T
ENST00000382099.2:c.1587G>T	ENSP00000371531.2:p.Trp529Cys
ENST00000382100.7:c.1587G>T	ENSP00000371532.2:p.Trp529Cys
ENST00000478776.1:n.99G>T
NM_001018056.1:c.1587G>T	NP_001018066.1:p.Trp529Cys
NM_003383.3:c.1587G>T	NP_003374.3:p.Trp529Cys
XM_011518029.1:c.1464G>T	XP_011516331.1:p.Trp488Cys
NM_001018056.2:c.1587G>T	NP_001018066.1:p.Trp529Cys
NM_001322225.1:c.1464G>T	NP_001309154.1:p.Trp488Cys
NM_001322226.1:c.1464G>T	NP_001309155.1:p.Trp488Cys
NM_003383.4:c.1587G>T	NP_003374.3:p.Trp529Cys
XR_001746373.2:n.1926G>T
XR_002956805.1:n.1926G>T
NM_003383.5:c.1587G>T MANE Select	NP_003374.3:p.Trp529Cys
NM_001018056.3:c.1587G>T	NP_001018066.1:p.Trp529Cys
NM_001322225.2:c.1464G>T	NP_001309154.1:p.Trp488Cys
NM_001322226.2:c.1464G>T	NP_001309155.1:p.Trp488Cys