Canonical Allele Identifier: CA023780
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183099
dbSNP Id: rs730882091

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107427C>T , CM000681.2:g.11107427C>T GRCh38
NC_000019.9:g.11218103C>T , CM000681.1:g.11218103C>T GRCh37
NC_000019.8:g.11079103C>T NCBI36
NG_009060.1:g.23047C>T , LRG_274:g.23047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1111C>T ENSP00000252444.6:p.His371Tyr
ENST00000559340.2:c.853C>T ENSP00000453696.2:p.His285Tyr
ENST00000560467.2:c.853C>T ENSP00000453513.2:p.His285Tyr
ENST00000558518.6:c.853C>T MANE Select ENSP00000454071.1:p.His285Tyr
ENST00000252444.9:c.1107C>T
ENST00000455727.6:c.349C>T ENSP00000397829.2:p.His117Tyr
ENST00000535915.5:c.730C>T ENSP00000440520.1:p.His244Tyr
ENST00000545707.5:c.472C>T ENSP00000437639.1:p.His158Tyr
ENST00000557933.5:c.853C>T ENSP00000453557.1:p.His285Tyr
ENST00000558013.5:c.853C>T ENSP00000453346.1:p.His285Tyr
ENST00000558518.5:c.853C>T ENSP00000454071.1:p.His285Tyr
ENST00000558528.1:n.368C>T
ENST00000560467.1:c.453C>T
NM_000527.4:c.853C>T , LRG_274t1:c.853C>T NP_000518.1:p.His285Tyr
NM_001195798.1:c.853C>T NP_001182727.1:p.His285Tyr
NM_001195799.1:c.730C>T NP_001182728.1:p.His244Tyr
NM_001195800.1:c.349C>T NP_001182729.1:p.His117Tyr
NM_001195803.1:c.472C>T NP_001182732.1:p.His158Tyr
XM_011528010.1:c.853C>T XP_011526312.1:p.His285Tyr
XM_011528011.1:c.472C>T XP_011526313.1:p.His158Tyr
XR_244074.2:n.1003C>T
XM_011528010.2:c.853C>T XP_011526312.1:p.His285Tyr
XR_001753685.2:n.970C>T
XR_001753686.2:n.970C>T
NM_000527.5:c.853C>T MANE Select NP_000518.1:p.His285Tyr
NM_001195798.2:c.853C>T NP_001182727.1:p.His285Tyr
NM_001195799.2:c.730C>T NP_001182728.1:p.His244Tyr
NM_001195800.2:c.349C>T NP_001182729.1:p.His117Tyr
NM_001195803.2:c.472C>T NP_001182732.1:p.His158Tyr