Canonical Allele Identifier: CA10585474
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251864
dbSNP Id: rs373646964

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113650G>C , CM000681.2:g.11113650G>C GRCh38
NC_000019.9:g.11224326G>C , CM000681.1:g.11224326G>C GRCh37
NC_000019.8:g.11085326G>C NCBI36
NG_009060.1:g.29270G>C , LRG_274:g.29270G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1732G>C ENSP00000252444.6:p.Asp578His
ENST00000559340.2:c.1474G>C ENSP00000453696.2:p.Asp492His
ENST00000560467.2:c.1354G>C ENSP00000453513.2:p.Asp452His
ENST00000558518.6:c.1474G>C MANE Select ENSP00000454071.1:p.Asp492His
ENST00000252444.9:c.1728G>C
ENST00000455727.6:c.970G>C ENSP00000397829.2:p.Asp324His
ENST00000535915.5:c.1351G>C ENSP00000440520.1:p.Asp451His
ENST00000545707.5:c.1093G>C ENSP00000437639.1:p.Asp365His
ENST00000557933.5:c.1474G>C ENSP00000453557.1:p.Asp492His
ENST00000558013.5:c.1474G>C ENSP00000453346.1:p.Asp492His
ENST00000558518.5:c.1474G>C ENSP00000454071.1:p.Asp492His
ENST00000559340.1:c.195G>C
NM_000527.4:c.1474G>C , LRG_274t1:c.1474G>C NP_000518.1:p.Asp492His
NM_001195798.1:c.1474G>C NP_001182727.1:p.Asp492His
NM_001195799.1:c.1351G>C NP_001182728.1:p.Asp451His
NM_001195800.1:c.970G>C NP_001182729.1:p.Asp324His
NM_001195803.1:c.1093G>C NP_001182732.1:p.Asp365His
XM_011528010.1:c.1474G>C XP_011526312.1:p.Asp492His
XM_011528011.1:c.1093G>C XP_011526313.1:p.Asp365His
XR_244074.2:n.1624G>C
XM_011528010.2:c.1474G>C XP_011526312.1:p.Asp492His
XR_001753685.2:n.1591G>C
XR_001753686.2:n.1591G>C
NM_000527.5:c.1474G>C MANE Select NP_000518.1:p.Asp492His
NM_001195798.2:c.1474G>C NP_001182727.1:p.Asp492His
NM_001195799.2:c.1351G>C NP_001182728.1:p.Asp451His
NM_001195800.2:c.970G>C NP_001182729.1:p.Asp324His
NM_001195803.2:c.1093G>C NP_001182732.1:p.Asp365His