Canonical Allele Identifier: CA404098615
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129546T>C , CM000681.2:g.11129546T>C GRCh38
NC_000019.9:g.11240222T>C , CM000681.1:g.11240222T>C GRCh37
NC_000019.8:g.11101222T>C NCBI36
NG_009060.1:g.45166T>C , LRG_274:g.45166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2681T>C ENSP00000252444.6:p.Leu894Pro
ENST00000559340.2:c.*492T>C ENSP00000453696.2:n.*492T>C
ENST00000560467.2:c.2303T>C ENSP00000453513.2:p.Leu768Pro
ENST00000558518.6:c.2423T>C MANE Select ENSP00000454071.1:p.Leu808Pro
ENST00000252444.9:c.2677T>C
ENST00000455727.6:c.1919T>C ENSP00000397829.2:p.Leu640Pro
ENST00000535915.5:c.2300T>C ENSP00000440520.1:p.Leu767Pro
ENST00000545707.5:c.1889T>C ENSP00000437639.1:p.Leu630Pro
ENST00000557933.5:c.2485T>C ENSP00000453557.1:p.Phe829Leu
ENST00000558013.5:c.2423T>C ENSP00000453346.1:p.Leu808Pro
ENST00000558518.5:c.2423T>C ENSP00000454071.1:p.Leu808Pro
ENST00000560628.1:n.108+1892T>C
NM_000527.4:c.2423T>C , LRG_274t1:c.2423T>C NP_000518.1:p.Leu808Pro
NM_001195798.1:c.2423T>C NP_001182727.1:p.Leu808Pro
NM_001195799.1:c.2300T>C NP_001182728.1:p.Leu767Pro
NM_001195800.1:c.1919T>C NP_001182729.1:p.Leu640Pro
NM_001195803.1:c.1889T>C NP_001182732.1:p.Leu630Pro
XM_011528010.1:c.2345T>C XP_011526312.1:p.Leu782Pro
XM_011528011.1:c.2042T>C XP_011526313.1:p.Leu681Pro
XR_244074.2:n.2433T>C
XM_011528010.2:c.2345T>C XP_011526312.1:p.Leu782Pro
XR_001753685.2:n.2757T>C
XR_001753686.2:n.2400T>C
NM_000527.5:c.2423T>C MANE Select NP_000518.1:p.Leu808Pro
NM_001195798.2:c.2423T>C NP_001182727.1:p.Leu808Pro
NM_001195799.2:c.2300T>C NP_001182728.1:p.Leu767Pro
NM_001195800.2:c.1919T>C NP_001182729.1:p.Leu640Pro
NM_001195803.2:c.1889T>C NP_001182732.1:p.Leu630Pro