Canonical Allele Identifier: CA404085170
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113411A>C , CM000681.2:g.11113411A>C GRCh38
NC_000019.9:g.11224087A>C , CM000681.1:g.11224087A>C GRCh37
NC_000019.8:g.11085087A>C NCBI36
NG_009060.1:g.29031A>C , LRG_274:g.29031A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1578A>C ENSP00000252444.6:p.Arg526Ser
ENST00000559340.2:c.1320A>C ENSP00000453696.2:p.Arg440Ser
ENST00000560467.2:c.1200A>C ENSP00000453513.2:p.Arg400Ser
ENST00000558518.6:c.1320A>C MANE Select ENSP00000454071.1:p.Arg440Ser
ENST00000252444.9:c.1574A>C
ENST00000455727.6:c.816A>C ENSP00000397829.2:p.Arg272Ser
ENST00000535915.5:c.1197A>C ENSP00000440520.1:p.Arg399Ser
ENST00000545707.5:c.939A>C ENSP00000437639.1:p.Arg313Ser
ENST00000557933.5:c.1320A>C ENSP00000453557.1:p.Arg440Ser
ENST00000558013.5:c.1320A>C ENSP00000453346.1:p.Arg440Ser
ENST00000558518.5:c.1320A>C ENSP00000454071.1:p.Arg440Ser
ENST00000559340.1:c.41A>C
ENST00000560173.1:n.319A>C
ENST00000560467.1:c.800A>C
NM_000527.4:c.1320A>C , LRG_274t1:c.1320A>C NP_000518.1:p.Arg440Ser
NM_001195798.1:c.1320A>C NP_001182727.1:p.Arg440Ser
NM_001195799.1:c.1197A>C NP_001182728.1:p.Arg399Ser
NM_001195800.1:c.816A>C NP_001182729.1:p.Arg272Ser
NM_001195803.1:c.939A>C NP_001182732.1:p.Arg313Ser
XM_011528010.1:c.1320A>C XP_011526312.1:p.Arg440Ser
XM_011528011.1:c.939A>C XP_011526313.1:p.Arg313Ser
XR_244074.2:n.1470A>C
XM_011528010.2:c.1320A>C XP_011526312.1:p.Arg440Ser
XR_001753685.2:n.1437A>C
XR_001753686.2:n.1437A>C
NM_000527.5:c.1320A>C MANE Select NP_000518.1:p.Arg440Ser
NM_001195798.2:c.1320A>C NP_001182727.1:p.Arg440Ser
NM_001195799.2:c.1197A>C NP_001182728.1:p.Arg399Ser
NM_001195800.2:c.816A>C NP_001182729.1:p.Arg272Ser
NM_001195803.2:c.939A>C NP_001182732.1:p.Arg313Ser