Canonical Allele Identifier: CA2322780237
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129512G= , CM000681.2:g.11129512G= GRCh38
NC_000019.9:g.11240188G= , CM000681.1:g.11240188G= GRCh37
NC_000019.8:g.11101188G= NCBI36
NG_009060.1:g.45132G= , LRG_274:g.45132G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-1G= ENSP00000252444.6:n.2648-1G=
ENST00000559340.2:c.*459-1G= ENSP00000453696.2:n.*459-1G=
ENST00000560467.2:c.2270-1G= ENSP00000453513.2:n.2270-1G=
ENST00000558518.6:c.2390-1G= MANE Select ENSP00000454071.1:n.2390-1G=
ENST00000252444.9:c.2644-1G=
ENST00000455727.6:c.1886-1G= ENSP00000397829.2:n.1886-1G=
ENST00000535915.5:c.2267-1G= ENSP00000440520.1:n.2267-1G=
ENST00000545707.5:c.1856-1G= ENSP00000437639.1:n.1856-1G=
ENST00000557933.5:c.2451G= ENSP00000453557.1:p.Gln817=
ENST00000558013.5:c.2390-1G= ENSP00000453346.1:n.2390-1G=
ENST00000558518.5:c.2390-1G= ENSP00000454071.1:n.2390-1G=
ENST00000560628.1:n.108+1858G=
NM_000527.4:c.2390-1G= , LRG_274t1:c.2390-1G= NP_000518.1:n.2390-1G=
NM_001195798.1:c.2390-1G= NP_001182727.1:n.2390-1G=
NM_001195799.1:c.2267-1G= NP_001182728.1:n.2267-1G=
NM_001195800.1:c.1886-1G= NP_001182729.1:n.1886-1G=
NM_001195803.1:c.1856-1G= NP_001182732.1:n.1856-1G=
XM_011528010.1:c.2312-1G= XP_011526312.1:n.2312-1G=
XM_011528011.1:c.2009-1G= XP_011526313.1:n.2009-1G=
XR_244074.2:n.2400-1G=
XM_011528010.2:c.2312-1G= XP_011526312.1:n.2312-1G=
XR_001753685.2:n.2724-1G=
XR_001753686.2:n.2367-1G=
NM_000527.5:c.2390-1G= MANE Select NP_000518.1:n.2390-1G=
NM_001195798.2:c.2390-1G= NP_001182727.1:n.2390-1G=
NM_001195799.2:c.2267-1G= NP_001182728.1:n.2267-1G=
NM_001195800.2:c.1886-1G= NP_001182729.1:n.1886-1G=
NM_001195803.2:c.1856-1G= NP_001182732.1:n.1856-1G=