Canonical Allele Identifier: CA2322779540
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128051T= , CM000681.2:g.11128051T= GRCh38
NC_000019.9:g.11238727T= , CM000681.1:g.11238727T= GRCh37
NC_000019.8:g.11099727T= NCBI36
NG_009060.1:g.43671T= , LRG_274:g.43671T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2613T= ENSP00000252444.6:p.Ser871=
ENST00000559340.2:c.*424T= ENSP00000453696.2:n.*424T=
ENST00000560467.2:c.2235T= ENSP00000453513.2:p.Ser745=
ENST00000558518.6:c.2355T= MANE Select ENSP00000454071.1:p.Ser785=
ENST00000252444.9:c.2609T=
ENST00000455727.6:c.1851T= ENSP00000397829.2:p.Ser617=
ENST00000535915.5:c.2232T= ENSP00000440520.1:p.Ser744=
ENST00000545707.5:c.1821T= ENSP00000437639.1:p.Ser607=
ENST00000557933.5:c.2355T= ENSP00000453557.1:p.Ser785=
ENST00000558013.5:c.2355T= ENSP00000453346.1:p.Ser785=
ENST00000558518.5:c.2355T= ENSP00000454071.1:p.Ser785=
ENST00000560628.1:n.108+397T=
NM_000527.4:c.2355T= , LRG_274t1:c.2355T= NP_000518.1:p.Ser785=
NM_001195798.1:c.2355T= NP_001182727.1:p.Ser785=
NM_001195799.1:c.2232T= NP_001182728.1:p.Ser744=
NM_001195800.1:c.1851T= NP_001182729.1:p.Ser617=
NM_001195803.1:c.1821T= NP_001182732.1:p.Ser607=
XM_011528010.1:c.2312-1462T= XP_011526312.1:n.2312-1462T=
XM_011528011.1:c.1974T= XP_011526313.1:p.Ser658=
XR_244074.2:n.2365T=
XM_011528010.2:c.2312-1462T= XP_011526312.1:n.2312-1462T=
XR_001753685.2:n.2689T=
XR_001753686.2:n.2332T=
NM_000527.5:c.2355T= MANE Select NP_000518.1:p.Ser785=
NM_001195798.2:c.2355T= NP_001182727.1:p.Ser785=
NM_001195799.2:c.2232T= NP_001182728.1:p.Ser744=
NM_001195800.2:c.1851T= NP_001182729.1:p.Ser617=
NM_001195803.2:c.1821T= NP_001182732.1:p.Ser607=