Canonical Allele Identifier: CA404096897
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128077T>C , CM000681.2:g.11128077T>C GRCh38
NC_000019.9:g.11238753T>C , CM000681.1:g.11238753T>C GRCh37
NC_000019.8:g.11099753T>C NCBI36
NG_009060.1:g.43697T>C , LRG_274:g.43697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2639T>C ENSP00000252444.6:p.Leu880Pro
ENST00000559340.2:c.*450T>C ENSP00000453696.2:n.*450T>C
ENST00000560467.2:c.2261T>C ENSP00000453513.2:p.Leu754Pro
ENST00000558518.6:c.2381T>C MANE Select ENSP00000454071.1:p.Leu794Pro
ENST00000252444.9:c.2635T>C
ENST00000455727.6:c.1877T>C ENSP00000397829.2:p.Leu626Pro
ENST00000535915.5:c.2258T>C ENSP00000440520.1:p.Leu753Pro
ENST00000545707.5:c.1847T>C ENSP00000437639.1:p.Leu616Pro
ENST00000557933.5:c.2381T>C ENSP00000453557.1:p.Leu794Pro
ENST00000558013.5:c.2381T>C ENSP00000453346.1:p.Leu794Pro
ENST00000558518.5:c.2381T>C ENSP00000454071.1:p.Leu794Pro
ENST00000560628.1:n.108+423T>C
NM_000527.4:c.2381T>C , LRG_274t1:c.2381T>C NP_000518.1:p.Leu794Pro
NM_001195798.1:c.2381T>C NP_001182727.1:p.Leu794Pro
NM_001195799.1:c.2258T>C NP_001182728.1:p.Leu753Pro
NM_001195800.1:c.1877T>C NP_001182729.1:p.Leu626Pro
NM_001195803.1:c.1847T>C NP_001182732.1:p.Leu616Pro
XM_011528010.1:c.2312-1436T>C XP_011526312.1:n.2312-1436T>C
XM_011528011.1:c.2000T>C XP_011526313.1:p.Leu667Pro
XR_244074.2:n.2391T>C
XM_011528010.2:c.2312-1436T>C XP_011526312.1:n.2312-1436T>C
XR_001753685.2:n.2715T>C
XR_001753686.2:n.2358T>C
NM_000527.5:c.2381T>C MANE Select NP_000518.1:p.Leu794Pro
NM_001195798.2:c.2381T>C NP_001182727.1:p.Leu794Pro
NM_001195799.2:c.2258T>C NP_001182728.1:p.Leu753Pro
NM_001195800.2:c.1877T>C NP_001182729.1:p.Leu626Pro
NM_001195803.2:c.1847T>C NP_001182732.1:p.Leu616Pro