Canonical Allele Identifier: CA2322780267
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129539G= , CM000681.2:g.11129539G= GRCh38
NC_000019.9:g.11240215G= , CM000681.1:g.11240215G= GRCh37
NC_000019.8:g.11101215G= NCBI36
NG_009060.1:g.45159G= , LRG_274:g.45159G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2674G= ENSP00000252444.6:p.Val892=
ENST00000559340.2:c.*485G= ENSP00000453696.2:n.*485G=
ENST00000560467.2:c.2296G= ENSP00000453513.2:p.Val766=
ENST00000558518.6:c.2416G= MANE Select ENSP00000454071.1:p.Val806=
ENST00000252444.9:c.2670G=
ENST00000455727.6:c.1912G= ENSP00000397829.2:p.Val638=
ENST00000535915.5:c.2293G= ENSP00000440520.1:p.Val765=
ENST00000545707.5:c.1882G= ENSP00000437639.1:p.Val628=
ENST00000557933.5:c.2478G= ENSP00000453557.1:p.Gly826=
ENST00000558013.5:c.2416G= ENSP00000453346.1:p.Val806=
ENST00000558518.5:c.2416G= ENSP00000454071.1:p.Val806=
ENST00000560628.1:n.108+1885G=
NM_000527.4:c.2416G= , LRG_274t1:c.2416G= NP_000518.1:p.Val806=
NM_001195798.1:c.2416G= NP_001182727.1:p.Val806=
NM_001195799.1:c.2293G= NP_001182728.1:p.Val765=
NM_001195800.1:c.1912G= NP_001182729.1:p.Val638=
NM_001195803.1:c.1882G= NP_001182732.1:p.Val628=
XM_011528010.1:c.2338G= XP_011526312.1:p.Val780=
XM_011528011.1:c.2035G= XP_011526313.1:p.Val679=
XR_244074.2:n.2426G=
XM_011528010.2:c.2338G= XP_011526312.1:p.Val780=
XR_001753685.2:n.2750G=
XR_001753686.2:n.2393G=
NM_000527.5:c.2416G= MANE Select NP_000518.1:p.Val806=
NM_001195798.2:c.2416G= NP_001182727.1:p.Val806=
NM_001195799.2:c.2293G= NP_001182728.1:p.Val765=
NM_001195800.2:c.1912G= NP_001182729.1:p.Val638=
NM_001195803.2:c.1882G= NP_001182732.1:p.Val628=