Canonical Allele Identifier: CA2322780287
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129577C= , CM000681.2:g.11129577C= GRCh38
NC_000019.9:g.11240253C= , CM000681.1:g.11240253C= GRCh37
NC_000019.8:g.11101253C= NCBI36
NG_009060.1:g.45197C= , LRG_274:g.45197C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2712C= ENSP00000252444.6:p.Ile904=
ENST00000559340.2:c.*523C= ENSP00000453696.2:n.*523C=
ENST00000560467.2:c.2334C= ENSP00000453513.2:p.Ile778=
ENST00000558518.6:c.2454C= MANE Select ENSP00000454071.1:p.Ile818=
ENST00000252444.9:c.2708C=
ENST00000455727.6:c.1950C= ENSP00000397829.2:p.Ile650=
ENST00000535915.5:c.2331C= ENSP00000440520.1:p.Ile777=
ENST00000545707.5:c.1920C= ENSP00000437639.1:p.Ile640=
ENST00000557933.5:c.2516C= ENSP00000453557.1:p.Ser839=
ENST00000558013.5:c.2454C= ENSP00000453346.1:p.Ile818=
ENST00000558518.5:c.2454C= ENSP00000454071.1:p.Ile818=
ENST00000560628.1:n.108+1923C=
NM_000527.4:c.2454C= , LRG_274t1:c.2454C= NP_000518.1:p.Ile818=
NM_001195798.1:c.2454C= NP_001182727.1:p.Ile818=
NM_001195799.1:c.2331C= NP_001182728.1:p.Ile777=
NM_001195800.1:c.1950C= NP_001182729.1:p.Ile650=
NM_001195803.1:c.1920C= NP_001182732.1:p.Ile640=
XM_011528010.1:c.2376C= XP_011526312.1:p.Ile792=
XM_011528011.1:c.2073C= XP_011526313.1:p.Ile691=
XM_011528010.2:c.2376C= XP_011526312.1:p.Ile792=
XR_001753685.2:n.2788C=
XR_001753686.2:n.2431C=
NM_000527.5:c.2454C= MANE Select NP_000518.1:p.Ile818=
NM_001195798.2:c.2454C= NP_001182727.1:p.Ile818=
NM_001195799.2:c.2331C= NP_001182728.1:p.Ile777=
NM_001195800.2:c.1950C= NP_001182729.1:p.Ile650=
NM_001195803.2:c.1920C= NP_001182732.1:p.Ile640=