Canonical Allele Identifier: CA372797129

Gene: VLDLR

Linked Data

• MyVariant Identifiers: chr9:g.2647589C>T (hg19) ; chr9:g.2647589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647589C>T , CM000671.2:g.2647589C>T	GRCh38
NC_000009.11:g.2647589C>T , CM000671.1:g.2647589C>T	GRCh37
NC_000009.10:g.2637589C>T	NCBI36
NG_012741.1:g.30797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382099.3:c.1377C>T
ENST00000382100.8:c.1819C>T MANE Select	ENSP00000371532.2:p.Leu607Phe
ENST00000478776.2:n.1264C>T
ENST00000679488.1:n.309C>T
ENST00000679718.1:n.1055C>T
ENST00000679750.1:n.1235C>T
ENST00000679851.1:n.2003C>T
ENST00000680021.1:n.2019C>T
ENST00000680043.1:c.1371C>T
ENST00000680219.1:c.1386C>T
ENST00000680243.1:c.*1598C>T	ENSP00000505911.1:n.*1598C>T
ENST00000680296.1:c.1245C>T
ENST00000680332.1:n.837C>T
ENST00000680746.1:c.1696C>T	ENSP00000505030.1:p.Leu566Phe
ENST00000680751.1:n.1224C>T
ENST00000680891.1:c.*1611C>T	ENSP00000505167.1:n.*1611C>T
ENST00000680975.1:n.1204C>T
ENST00000681087.1:n.1264C>T
ENST00000681306.1:c.1819C>T	ENSP00000506072.1:p.Leu607Phe
ENST00000681618.1:c.1696C>T	ENSP00000505773.1:p.Leu566Phe
ENST00000681644.1:c.*1491C>T	ENSP00000505180.1:n.*1491C>T
ENST00000681806.1:c.*257C>T	ENSP00000505282.1:n.*257C>T
ENST00000681942.1:c.1302C>T
ENST00000382099.2:c.1819C>T	ENSP00000371531.2:p.Leu607Phe
ENST00000382100.7:c.1819C>T	ENSP00000371532.2:p.Leu607Phe
ENST00000478776.1:n.331C>T
NM_001018056.1:c.1819C>T	NP_001018066.1:p.Leu607Phe
NM_003383.3:c.1819C>T	NP_003374.3:p.Leu607Phe
XM_011518029.1:c.1696C>T	XP_011516331.1:p.Leu566Phe
NM_001018056.2:c.1819C>T	NP_001018066.1:p.Leu607Phe
NM_001322225.1:c.1696C>T	NP_001309154.1:p.Leu566Phe
NM_001322226.1:c.1696C>T	NP_001309155.1:p.Leu566Phe
NM_003383.4:c.1819C>T	NP_003374.3:p.Leu607Phe
XR_001746373.2:n.2158C>T
XR_002956805.1:n.2158C>T
NM_003383.5:c.1819C>T MANE Select	NP_003374.3:p.Leu607Phe
NM_001018056.3:c.1819C>T	NP_001018066.1:p.Leu607Phe
NM_001322225.2:c.1696C>T	NP_001309154.1:p.Leu566Phe
NM_001322226.2:c.1696C>T	NP_001309155.1:p.Leu566Phe