Canonical Allele Identifier: CA2322779544
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128056T= , CM000681.2:g.11128056T= GRCh38
NC_000019.9:g.11238732T= , CM000681.1:g.11238732T= GRCh37
NC_000019.8:g.11099732T= NCBI36
NG_009060.1:g.43676T= , LRG_274:g.43676T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2618T= ENSP00000252444.6:p.Val873=
ENST00000559340.2:c.*429T= ENSP00000453696.2:n.*429T=
ENST00000560467.2:c.2240T= ENSP00000453513.2:p.Val747=
ENST00000558518.6:c.2360T= MANE Select ENSP00000454071.1:p.Val787=
ENST00000252444.9:c.2614T=
ENST00000455727.6:c.1856T= ENSP00000397829.2:p.Val619=
ENST00000535915.5:c.2237T= ENSP00000440520.1:p.Val746=
ENST00000545707.5:c.1826T= ENSP00000437639.1:p.Val609=
ENST00000557933.5:c.2360T= ENSP00000453557.1:p.Val787=
ENST00000558013.5:c.2360T= ENSP00000453346.1:p.Val787=
ENST00000558518.5:c.2360T= ENSP00000454071.1:p.Val787=
ENST00000560628.1:n.108+402T=
NM_000527.4:c.2360T= , LRG_274t1:c.2360T= NP_000518.1:p.Val787=
NM_001195798.1:c.2360T= NP_001182727.1:p.Val787=
NM_001195799.1:c.2237T= NP_001182728.1:p.Val746=
NM_001195800.1:c.1856T= NP_001182729.1:p.Val619=
NM_001195803.1:c.1826T= NP_001182732.1:p.Val609=
XM_011528010.1:c.2312-1457T= XP_011526312.1:n.2312-1457T=
XM_011528011.1:c.1979T= XP_011526313.1:p.Val660=
XR_244074.2:n.2370T=
XM_011528010.2:c.2312-1457T= XP_011526312.1:n.2312-1457T=
XR_001753685.2:n.2694T=
XR_001753686.2:n.2337T=
NM_000527.5:c.2360T= MANE Select NP_000518.1:p.Val787=
NM_001195798.2:c.2360T= NP_001182727.1:p.Val787=
NM_001195799.2:c.2237T= NP_001182728.1:p.Val746=
NM_001195800.2:c.1856T= NP_001182729.1:p.Val619=
NM_001195803.2:c.1826T= NP_001182732.1:p.Val609=