Canonical Allele Identifier: CA2322780315
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129632C= , CM000681.2:g.11129632C= GRCh38
NC_000019.9:g.11240308C= , CM000681.1:g.11240308C= GRCh37
NC_000019.8:g.11101308C= NCBI36
NG_009060.1:g.45252C= , LRG_274:g.45252C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2767C= ENSP00000252444.6:p.His923=
ENST00000559340.2:c.*578C= ENSP00000453696.2:n.*578C=
ENST00000560467.2:c.2389C= ENSP00000453513.2:p.His797=
ENST00000558518.6:c.2509C= MANE Select ENSP00000454071.1:p.His837=
ENST00000252444.9:c.2763C=
ENST00000455727.6:c.2005C= ENSP00000397829.2:p.His669=
ENST00000535915.5:c.2386C= ENSP00000440520.1:p.His796=
ENST00000545707.5:c.1975C= ENSP00000437639.1:p.His659=
ENST00000557933.5:c.2571C= ENSP00000453557.1:p.Ser857=
ENST00000558013.5:c.2509C= ENSP00000453346.1:p.His837=
ENST00000558518.5:c.2509C= ENSP00000454071.1:p.His837=
ENST00000560628.1:n.108+1978C=
NM_000527.4:c.2509C= , LRG_274t1:c.2509C= NP_000518.1:p.His837=
NM_001195798.1:c.2509C= NP_001182727.1:p.His837=
NM_001195799.1:c.2386C= NP_001182728.1:p.His796=
NM_001195800.1:c.2005C= NP_001182729.1:p.His669=
NM_001195803.1:c.1975C= NP_001182732.1:p.His659=
XM_011528010.1:c.2431C= XP_011526312.1:p.His811=
XM_011528011.1:c.2128C= XP_011526313.1:p.His710=
XM_011528010.2:c.2431C= XP_011526312.1:p.His811=
XR_001753685.2:n.2843C=
XR_001753686.2:n.2486C=
NM_000527.5:c.2509C= MANE Select NP_000518.1:p.His837=
NM_001195798.2:c.2509C= NP_001182727.1:p.His837=
NM_001195799.2:c.2386C= NP_001182728.1:p.His796=
NM_001195800.2:c.2005C= NP_001182729.1:p.His669=
NM_001195803.2:c.1975C= NP_001182732.1:p.His659=