Canonical Allele Identifier: CA10584735
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 250985
dbSNP Id: rs879254392

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089604C>T , CM000681.2:g.11089604C>T GRCh38
NC_000019.9:g.11200280C>T , CM000681.1:g.11200280C>T GRCh37
NC_000019.8:g.11061280C>T NCBI36
NG_009060.1:g.5224C>T , LRG_274:g.5224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.56C>T (LDLR) ENSP00000453696.2:p.Ala19Val
ENST00000560467.2:c.56C>T (LDLR) ENSP00000453513.2:p.Ala19Val
ENST00000558518.6:c.56C>T (LDLR) MANE Select ENSP00000454071.1:p.Ala19Val
ENST00000455727.6:c.56C>T (LDLR) ENSP00000397829.2:p.Ala19Val
ENST00000535915.5:c.56C>T (LDLR) ENSP00000440520.1:p.Ala19Val
ENST00000545707.5:c.56C>T (LDLR) ENSP00000437639.1:p.Ala19Val
ENST00000557933.5:c.56C>T (LDLR) ENSP00000453557.1:p.Ala19Val
ENST00000557958.1:n.142C>T (LDLR)
ENST00000558013.5:c.56C>T (LDLR) ENSP00000453346.1:p.Ala19Val
ENST00000558518.5:c.56C>T (LDLR) ENSP00000454071.1:p.Ala19Val
ENST00000560502.5:n.142C>T (LDLR)
NM_000527.4:c.56C>T , LRG_274t1:c.56C>T (LDLR) NP_000518.1:p.Ala19Val
NM_001195798.1:c.56C>T (LDLR) NP_001182727.1:p.Ala19Val
NM_001195799.1:c.56C>T (LDLR) NP_001182728.1:p.Ala19Val
NM_001195800.1:c.56C>T (LDLR) NP_001182729.1:p.Ala19Val
NM_001195803.1:c.56C>T (LDLR) NP_001182732.1:p.Ala19Val
XM_011528010.1:c.56C>T (LDLR) XP_011526312.1:p.Ala19Val
XM_011528011.1:c.56C>T (LDLR) XP_011526313.1:p.Ala19Val
XR_244074.2:n.206C>T (LDLR)
XM_011528010.2:c.56C>T (LDLR) XP_011526312.1:p.Ala19Val
XR_001753685.2:n.173C>T (LDLR)
XR_001753686.2:n.173C>T (LDLR)
NM_000527.5:c.56C>T (LDLR) MANE Select NP_000518.1:p.Ala19Val
NM_001195798.2:c.56C>T (LDLR) NP_001182727.1:p.Ala19Val
NM_001195799.2:c.56C>T (LDLR) NP_001182728.1:p.Ala19Val
NM_001195800.2:c.56C>T (LDLR) NP_001182729.1:p.Ala19Val
NM_001195803.2:c.56C>T (LDLR) NP_001182732.1:p.Ala19Val
NR_163945.1:n.56G>A (LDLR-AS1)