Canonical Allele Identifier: CA404099392
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2858518
ClinVar RCV Id: RCV003742273

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129613G>A , CM000681.2:g.11129613G>A GRCh38
NC_000019.9:g.11240289G>A , CM000681.1:g.11240289G>A GRCh37
NC_000019.8:g.11101289G>A NCBI36
NG_009060.1:g.45233G>A , LRG_274:g.45233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2748G>A ENSP00000252444.6:p.Lys916=
ENST00000559340.2:c.*559G>A ENSP00000453696.2:n.*559G>A
ENST00000560467.2:c.2370G>A ENSP00000453513.2:p.Lys790=
ENST00000558518.6:c.2490G>A MANE Select ENSP00000454071.1:p.Lys830=
ENST00000252444.9:c.2744G>A
ENST00000455727.6:c.1986G>A ENSP00000397829.2:p.Lys662=
ENST00000535915.5:c.2367G>A ENSP00000440520.1:p.Lys789=
ENST00000545707.5:c.1956G>A ENSP00000437639.1:p.Lys652=
ENST00000557933.5:c.2552G>A ENSP00000453557.1:p.Arg851Lys
ENST00000558013.5:c.2490G>A ENSP00000453346.1:p.Lys830=
ENST00000558518.5:c.2490G>A ENSP00000454071.1:p.Lys830=
ENST00000560628.1:n.108+1959G>A
NM_000527.4:c.2490G>A , LRG_274t1:c.2490G>A NP_000518.1:p.Lys830=
NM_001195798.1:c.2490G>A NP_001182727.1:p.Lys830=
NM_001195799.1:c.2367G>A NP_001182728.1:p.Lys789=
NM_001195800.1:c.1986G>A NP_001182729.1:p.Lys662=
NM_001195803.1:c.1956G>A NP_001182732.1:p.Lys652=
XM_011528010.1:c.2412G>A XP_011526312.1:p.Lys804=
XM_011528011.1:c.2109G>A XP_011526313.1:p.Lys703=
XM_011528010.2:c.2412G>A XP_011526312.1:p.Lys804=
XR_001753685.2:n.2824G>A
XR_001753686.2:n.2467G>A
NM_000527.5:c.2490G>A MANE Select NP_000518.1:p.Lys830=
NM_001195798.2:c.2490G>A NP_001182727.1:p.Lys830=
NM_001195799.2:c.2367G>A NP_001182728.1:p.Lys789=
NM_001195800.2:c.1986G>A NP_001182729.1:p.Lys662=
NM_001195803.2:c.1956G>A NP_001182732.1:p.Lys652=