Canonical Allele Identifier: CA372799915
Gene: VLDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2650388A>T , CM000671.2:g.2650388A>T GRCh38
NC_000009.11:g.2650388A>T , CM000671.1:g.2650388A>T GRCh37
NC_000009.10:g.2640388A>T NCBI36
NG_012741.1:g.33596A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.1681A>T
ENST00000382100.8:c.2123A>T MANE Select ENSP00000371532.2:p.Glu708Val
ENST00000679488.1:n.1549A>T
ENST00000679718.1:n.1359A>T
ENST00000679750.1:n.1539A>T
ENST00000679780.1:n.899A>T
ENST00000679851.1:n.2922A>T
ENST00000680021.1:n.2323A>T
ENST00000680043.1:c.1675A>T
ENST00000680219.1:c.1690A>T
ENST00000680243.1:c.*1762A>T ENSP00000505911.1:n.*1762A>T
ENST00000680296.1:c.1549A>T
ENST00000680332.1:n.1756A>T
ENST00000680440.1:n.263A>T
ENST00000680746.1:c.2000A>T ENSP00000505030.1:p.Glu667Val
ENST00000680751.1:n.1528A>T
ENST00000680891.1:c.*1915A>T ENSP00000505167.1:n.*1915A>T
ENST00000680975.1:n.1508A>T
ENST00000681087.1:n.1428A>T
ENST00000681306.1:c.2123A>T ENSP00000506072.1:p.Glu708Val
ENST00000681486.1:n.223A>T
ENST00000681618.1:c.2000A>T ENSP00000505773.1:p.Glu667Val
ENST00000681644.1:c.*1795A>T ENSP00000505180.1:n.*1795A>T
ENST00000681806.1:c.*561A>T ENSP00000505282.1:n.*561A>T
ENST00000681942.1:c.1606A>T
ENST00000382099.2:c.2123A>T ENSP00000371531.2:p.Glu708Val
ENST00000382100.7:c.2123A>T ENSP00000371532.2:p.Glu708Val
NM_001018056.1:c.2123A>T NP_001018066.1:p.Glu708Val
NM_003383.3:c.2123A>T NP_003374.3:p.Glu708Val
XM_011518029.1:c.2000A>T XP_011516331.1:p.Glu667Val
NM_001018056.2:c.2123A>T NP_001018066.1:p.Glu708Val
NM_001322225.1:c.2000A>T NP_001309154.1:p.Glu667Val
NM_001322226.1:c.2000A>T NP_001309155.1:p.Glu667Val
NM_003383.4:c.2123A>T NP_003374.3:p.Glu708Val
XR_001746373.2:n.2462A>T
XR_002956805.1:n.2462A>T
NM_003383.5:c.2123A>T MANE Select NP_003374.3:p.Glu708Val
NM_001018056.3:c.2123A>T NP_001018066.1:p.Glu708Val
NM_001322225.2:c.2000A>T NP_001309154.1:p.Glu667Val
NM_001322226.2:c.2000A>T NP_001309155.1:p.Glu667Val