Canonical Allele Identifier: CA404098407
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2828347
ClinVar RCV Id: RCV003741922

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129531G>C , CM000681.2:g.11129531G>C GRCh38
NC_000019.9:g.11240207G>C , CM000681.1:g.11240207G>C GRCh37
NC_000019.8:g.11101207G>C NCBI36
NG_009060.1:g.45151G>C , LRG_274:g.45151G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2666G>C ENSP00000252444.6:p.Cys889Ser
ENST00000559340.2:c.*477G>C ENSP00000453696.2:n.*477G>C
ENST00000560467.2:c.2288G>C ENSP00000453513.2:p.Cys763Ser
ENST00000558518.6:c.2408G>C MANE Select ENSP00000454071.1:p.Cys803Ser
ENST00000252444.9:c.2662G>C
ENST00000455727.6:c.1904G>C ENSP00000397829.2:p.Cys635Ser
ENST00000535915.5:c.2285G>C ENSP00000440520.1:p.Cys762Ser
ENST00000545707.5:c.1874G>C ENSP00000437639.1:p.Cys625Ser
ENST00000557933.5:c.2470G>C ENSP00000453557.1:p.Ala824Pro
ENST00000558013.5:c.2408G>C ENSP00000453346.1:p.Cys803Ser
ENST00000558518.5:c.2408G>C ENSP00000454071.1:p.Cys803Ser
ENST00000560628.1:n.108+1877G>C
NM_000527.4:c.2408G>C , LRG_274t1:c.2408G>C NP_000518.1:p.Cys803Ser
NM_001195798.1:c.2408G>C NP_001182727.1:p.Cys803Ser
NM_001195799.1:c.2285G>C NP_001182728.1:p.Cys762Ser
NM_001195800.1:c.1904G>C NP_001182729.1:p.Cys635Ser
NM_001195803.1:c.1874G>C NP_001182732.1:p.Cys625Ser
XM_011528010.1:c.2330G>C XP_011526312.1:p.Cys777Ser
XM_011528011.1:c.2027G>C XP_011526313.1:p.Cys676Ser
XR_244074.2:n.2418G>C
XM_011528010.2:c.2330G>C XP_011526312.1:p.Cys777Ser
XR_001753685.2:n.2742G>C
XR_001753686.2:n.2385G>C
NM_000527.5:c.2408G>C MANE Select NP_000518.1:p.Cys803Ser
NM_001195798.2:c.2408G>C NP_001182727.1:p.Cys803Ser
NM_001195799.2:c.2285G>C NP_001182728.1:p.Cys762Ser
NM_001195800.2:c.1904G>C NP_001182729.1:p.Cys635Ser
NM_001195803.2:c.1874G>C NP_001182732.1:p.Cys625Ser