Canonical Allele Identifier: CA039415
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2198734
ClinVar RCV Id: RCV002633838
dbSNP Id: rs143461141

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123338C>T , CM000681.2:g.11123338C>T GRCh38
NC_000019.9:g.11234014C>T , CM000681.1:g.11234014C>T GRCh37
NC_000019.8:g.11095014C>T NCBI36
NG_009060.1:g.38958C>T , LRG_274:g.38958C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2563C>T ENSP00000252444.6:p.His855Tyr
ENST00000559340.2:c.*374C>T ENSP00000453696.2:n.*374C>T
ENST00000560467.2:c.2185C>T ENSP00000453513.2:p.His729Tyr
ENST00000558518.6:c.2305C>T MANE Select ENSP00000454071.1:p.His769Tyr
ENST00000252444.9:c.2559C>T
ENST00000455727.6:c.1801C>T ENSP00000397829.2:p.His601Tyr
ENST00000535915.5:c.2182C>T ENSP00000440520.1:p.His728Tyr
ENST00000545707.5:c.1771C>T ENSP00000437639.1:p.His591Tyr
ENST00000557933.5:c.2305C>T ENSP00000453557.1:p.His769Tyr
ENST00000558013.5:c.2305C>T ENSP00000453346.1:p.His769Tyr
ENST00000558518.5:c.2305C>T ENSP00000454071.1:p.His769Tyr
NM_000527.4:c.2305C>T , LRG_274t1:c.2305C>T NP_000518.1:p.His769Tyr
NM_001195798.1:c.2305C>T NP_001182727.1:p.His769Tyr
NM_001195799.1:c.2182C>T NP_001182728.1:p.His728Tyr
NM_001195800.1:c.1801C>T NP_001182729.1:p.His601Tyr
NM_001195803.1:c.1771C>T NP_001182732.1:p.His591Tyr
XM_011528010.1:c.2305C>T XP_011526312.1:p.His769Tyr
XM_011528011.1:c.1924C>T XP_011526313.1:p.His642Tyr
XR_244074.2:n.2315C>T
XM_011528010.2:c.2305C>T XP_011526312.1:p.His769Tyr
XR_001753685.2:n.2639C>T
XR_001753686.2:n.2282C>T
NM_000527.5:c.2305C>T MANE Select NP_000518.1:p.His769Tyr
NM_001195798.2:c.2305C>T NP_001182727.1:p.His769Tyr
NM_001195799.2:c.2182C>T NP_001182728.1:p.His728Tyr
NM_001195800.2:c.1801C>T NP_001182729.1:p.His601Tyr
NM_001195803.2:c.1771C>T NP_001182732.1:p.His591Tyr