Canonical Allele Identifier: CA2580858469
Community Standard Title: NM_003383.5(VLDLR):c.2339T= (p.Ile780=)
Gene: VLDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2651877T= , CM000671.2:g.2651877T= GRCh38
NC_000009.11:g.2651877T= , CM000671.1:g.2651877T= GRCh37
NC_000009.10:g.2641877T= NCBI36
NG_012741.1:g.35085T=

Transcript Alleles

HGVS Amino-acid Change
NM_003383.5:c.2339T= MANE Select NP_003374.3:p.Ile780=
ENST00000382100.8:c.2339T= MANE Select ENSP00000371532.2:p.Ile780=
NM_001018056.1:c.2255T= NP_001018066.1:p.Ile752=
NM_001018056.2:c.2255T= NP_001018066.1:p.Ile752=
NM_001018056.3:c.2255T= NP_001018066.1:p.Ile752=
NM_001322225.1:c.2216T= NP_001309154.1:p.Ile739=
NM_001322225.2:c.2216T= NP_001309154.1:p.Ile739=
NM_001322226.1:c.2132T= NP_001309155.1:p.Ile711=
NM_001322226.2:c.2132T= NP_001309155.1:p.Ile711=
NM_003383.3:c.2339T= NP_003374.3:p.Ile780=
NM_003383.4:c.2339T= NP_003374.3:p.Ile780=
ENST00000382099.2:c.2255T= ENSP00000371531.2:p.Ile752=
ENST00000382099.3:c.1897T=
ENST00000382100.7:c.2339T= ENSP00000371532.2:p.Ile780=
ENST00000679488.1:n.3038T=
ENST00000679718.1:n.2848T=
ENST00000679750.1:n.1671T=
ENST00000679780.1:n.1115T=
ENST00000679851.1:n.3054T=
ENST00000680021.1:n.2539T=
ENST00000680043.1:c.1807T=
ENST00000680243.1:c.*1978T= ENSP00000505911.1:n.*1978T=
ENST00000680332.1:n.3245T=
ENST00000680440.1:n.395T=
ENST00000680745.1:n.1096T=
ENST00000680746.1:c.2216T= ENSP00000505030.1:p.Ile739=
ENST00000680751.1:n.1660T=
ENST00000680891.1:c.*2047T= ENSP00000505167.1:n.*2047T=
ENST00000680975.1:n.1724T=
ENST00000681306.1:c.2255T= ENSP00000506072.1:p.Ile752=
ENST00000681486.1:n.439T=
ENST00000681518.1:c.4T=
ENST00000681618.1:c.2132T= ENSP00000505773.1:p.Ile711=
ENST00000681644.1:c.*1927T= ENSP00000505180.1:n.*1927T=
ENST00000681806.1:c.*693T= ENSP00000505282.1:n.*693T=
ENST00000681876.1:c.4T=
ENST00000681942.1:c.1738T=
XM_011518029.1:c.2216T= XP_011516331.1:p.Ile739=
XR_001746373.2:n.2594T=
XR_002956805.1:n.2678T=