Canonical Allele Identifier: CA2322780245
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129518C= , CM000681.2:g.11129518C= GRCh38
NC_000019.9:g.11240194C= , CM000681.1:g.11240194C= GRCh37
NC_000019.8:g.11101194C= NCBI36
NG_009060.1:g.45138C= , LRG_274:g.45138C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2653C= ENSP00000252444.6:p.Leu885=
ENST00000559340.2:c.*464C= ENSP00000453696.2:n.*464C=
ENST00000560467.2:c.2275C= ENSP00000453513.2:p.Leu759=
ENST00000558518.6:c.2395C= MANE Select ENSP00000454071.1:p.Leu799=
ENST00000252444.9:c.2649C=
ENST00000455727.6:c.1891C= ENSP00000397829.2:p.Leu631=
ENST00000535915.5:c.2272C= ENSP00000440520.1:p.Leu758=
ENST00000545707.5:c.1861C= ENSP00000437639.1:p.Leu621=
ENST00000557933.5:c.2457C= ENSP00000453557.1:p.Ser819=
ENST00000558013.5:c.2395C= ENSP00000453346.1:p.Leu799=
ENST00000558518.5:c.2395C= ENSP00000454071.1:p.Leu799=
ENST00000560628.1:n.108+1864C=
NM_000527.4:c.2395C= , LRG_274t1:c.2395C= NP_000518.1:p.Leu799=
NM_001195798.1:c.2395C= NP_001182727.1:p.Leu799=
NM_001195799.1:c.2272C= NP_001182728.1:p.Leu758=
NM_001195800.1:c.1891C= NP_001182729.1:p.Leu631=
NM_001195803.1:c.1861C= NP_001182732.1:p.Leu621=
XM_011528010.1:c.2317C= XP_011526312.1:p.Leu773=
XM_011528011.1:c.2014C= XP_011526313.1:p.Leu672=
XR_244074.2:n.2405C=
XM_011528010.2:c.2317C= XP_011526312.1:p.Leu773=
XR_001753685.2:n.2729C=
XR_001753686.2:n.2372C=
NM_000527.5:c.2395C= MANE Select NP_000518.1:p.Leu799=
NM_001195798.2:c.2395C= NP_001182727.1:p.Leu799=
NM_001195799.2:c.2272C= NP_001182728.1:p.Leu758=
NM_001195800.2:c.1891C= NP_001182729.1:p.Leu631=
NM_001195803.2:c.1861C= NP_001182732.1:p.Leu621=