Canonical Allele Identifier: CA2322777223
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123264G= , CM000681.2:g.11123264G= GRCh38
NC_000019.9:g.11233940G= , CM000681.1:g.11233940G= GRCh37
NC_000019.8:g.11094940G= NCBI36
NG_009060.1:g.38884G= , LRG_274:g.38884G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2489G= ENSP00000252444.6:p.Arg830=
ENST00000559340.2:c.*300G= ENSP00000453696.2:n.*300G=
ENST00000560467.2:c.2111G= ENSP00000453513.2:p.Arg704=
ENST00000558518.6:c.2231G= MANE Select ENSP00000454071.1:p.Arg744=
ENST00000252444.9:c.2485G=
ENST00000455727.6:c.1727G= ENSP00000397829.2:p.Arg576=
ENST00000535915.5:c.2108G= ENSP00000440520.1:p.Arg703=
ENST00000545707.5:c.1697G= ENSP00000437639.1:p.Arg566=
ENST00000557933.5:c.2231G= ENSP00000453557.1:p.Arg744=
ENST00000558013.5:c.2231G= ENSP00000453346.1:p.Arg744=
ENST00000558518.5:c.2231G= ENSP00000454071.1:p.Arg744=
NM_000527.4:c.2231G= , LRG_274t1:c.2231G= NP_000518.1:p.Arg744=
NM_001195798.1:c.2231G= NP_001182727.1:p.Arg744=
NM_001195799.1:c.2108G= NP_001182728.1:p.Arg703=
NM_001195800.1:c.1727G= NP_001182729.1:p.Arg576=
NM_001195803.1:c.1697G= NP_001182732.1:p.Arg566=
XM_011528010.1:c.2231G= XP_011526312.1:p.Arg744=
XM_011528011.1:c.1850G= XP_011526313.1:p.Arg617=
XR_244074.2:n.2241G=
XM_011528010.2:c.2231G= XP_011526312.1:p.Arg744=
XR_001753685.2:n.2565G=
XR_001753686.2:n.2208G=
NM_000527.5:c.2231G= MANE Select NP_000518.1:p.Arg744=
NM_001195798.2:c.2231G= NP_001182727.1:p.Arg744=
NM_001195799.2:c.2108G= NP_001182728.1:p.Arg703=
NM_001195800.2:c.1727G= NP_001182729.1:p.Arg576=
NM_001195803.2:c.1697G= NP_001182732.1:p.Arg566=