Canonical Allele Identifier: CA404098249
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129519T>C , CM000681.2:g.11129519T>C GRCh38
NC_000019.9:g.11240195T>C , CM000681.1:g.11240195T>C GRCh37
NC_000019.8:g.11101195T>C NCBI36
NG_009060.1:g.45139T>C , LRG_274:g.45139T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2654T>C ENSP00000252444.6:p.Leu885Pro
ENST00000559340.2:c.*465T>C ENSP00000453696.2:n.*465T>C
ENST00000560467.2:c.2276T>C ENSP00000453513.2:p.Leu759Pro
ENST00000558518.6:c.2396T>C MANE Select ENSP00000454071.1:p.Leu799Pro
ENST00000252444.9:c.2650T>C
ENST00000455727.6:c.1892T>C ENSP00000397829.2:p.Leu631Pro
ENST00000535915.5:c.2273T>C ENSP00000440520.1:p.Leu758Pro
ENST00000545707.5:c.1862T>C ENSP00000437639.1:p.Leu621Pro
ENST00000557933.5:c.2458T>C ENSP00000453557.1:p.Ser820Pro
ENST00000558013.5:c.2396T>C ENSP00000453346.1:p.Leu799Pro
ENST00000558518.5:c.2396T>C ENSP00000454071.1:p.Leu799Pro
ENST00000560628.1:n.108+1865T>C
NM_000527.4:c.2396T>C , LRG_274t1:c.2396T>C NP_000518.1:p.Leu799Pro
NM_001195798.1:c.2396T>C NP_001182727.1:p.Leu799Pro
NM_001195799.1:c.2273T>C NP_001182728.1:p.Leu758Pro
NM_001195800.1:c.1892T>C NP_001182729.1:p.Leu631Pro
NM_001195803.1:c.1862T>C NP_001182732.1:p.Leu621Pro
XM_011528010.1:c.2318T>C XP_011526312.1:p.Leu773Pro
XM_011528011.1:c.2015T>C XP_011526313.1:p.Leu672Pro
XR_244074.2:n.2406T>C
XM_011528010.2:c.2318T>C XP_011526312.1:p.Leu773Pro
XR_001753685.2:n.2730T>C
XR_001753686.2:n.2373T>C
NM_000527.5:c.2396T>C MANE Select NP_000518.1:p.Leu799Pro
NM_001195798.2:c.2396T>C NP_001182727.1:p.Leu799Pro
NM_001195799.2:c.2273T>C NP_001182728.1:p.Leu758Pro
NM_001195800.2:c.1892T>C NP_001182729.1:p.Leu631Pro
NM_001195803.2:c.1862T>C NP_001182732.1:p.Leu621Pro