Canonical Allele Identifier: CA463712700
Gene: VLDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.2635514G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2635514G>A , CM000671.2:g.2635514G>A GRCh38
NC_000009.11:g.2635514G>A , CM000671.1:g.2635514G>A GRCh37
NC_000009.10:g.2625514G>A NCBI36
NG_012741.1:g.18722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.144G>A ENSP00000371528.2:p.Leu48=
ENST00000382100.8:c.144G>A MANE Select ENSP00000371532.2:p.Leu48=
ENST00000679851.1:n.129G>A
ENST00000680021.1:n.344G>A
ENST00000680243.1:c.144G>A ENSP00000505911.1:p.Leu48=
ENST00000680746.1:c.144G>A ENSP00000505030.1:p.Leu48=
ENST00000680891.1:c.242G>A ENSP00000505167.1:p.Cys81Tyr
ENST00000681306.1:c.144G>A ENSP00000506072.1:p.Leu48=
ENST00000681618.1:c.144G>A ENSP00000505773.1:p.Leu48=
ENST00000681644.1:c.242G>A ENSP00000505180.1:p.Cys81Tyr
ENST00000681770.1:n.132G>A
ENST00000681806.1:c.144G>A ENSP00000505282.1:p.Leu48=
ENST00000382096.5:c.144G>A ENSP00000371528.1:p.Leu48=
ENST00000382099.2:c.144G>A ENSP00000371531.2:p.Leu48=
ENST00000382100.7:c.144G>A ENSP00000371532.2:p.Leu48=
NM_001018056.1:c.144G>A NP_001018066.1:p.Leu48=
NM_003383.3:c.144G>A NP_003374.3:p.Leu48=
XM_011518029.1:c.144G>A XP_011516331.1:p.Leu48=
NM_001018056.2:c.144G>A NP_001018066.1:p.Leu48=
NM_001322225.1:c.144G>A NP_001309154.1:p.Leu48=
NM_001322226.1:c.144G>A NP_001309155.1:p.Leu48=
NM_003383.4:c.144G>A NP_003374.3:p.Leu48=
XR_001746373.2:n.548G>A
XR_002956805.1:n.548G>A
NM_003383.5:c.144G>A MANE Select NP_003374.3:p.Leu48=
NM_001018056.3:c.144G>A NP_001018066.1:p.Leu48=
NM_001322225.2:c.144G>A NP_001309154.1:p.Leu48=
NM_001322226.2:c.144G>A NP_001309155.1:p.Leu48=