Canonical Allele Identifier: CA404095826
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123336C>A , CM000681.2:g.11123336C>A GRCh38
NC_000019.9:g.11234012C>A , CM000681.1:g.11234012C>A GRCh37
NC_000019.8:g.11095012C>A NCBI36
NG_009060.1:g.38956C>A , LRG_274:g.38956C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2561C>A ENSP00000252444.6:p.Ser854Tyr
ENST00000559340.2:c.*372C>A ENSP00000453696.2:n.*372C>A
ENST00000560467.2:c.2183C>A ENSP00000453513.2:p.Ser728Tyr
ENST00000558518.6:c.2303C>A MANE Select ENSP00000454071.1:p.Ser768Tyr
ENST00000252444.9:c.2557C>A
ENST00000455727.6:c.1799C>A ENSP00000397829.2:p.Ser600Tyr
ENST00000535915.5:c.2180C>A ENSP00000440520.1:p.Ser727Tyr
ENST00000545707.5:c.1769C>A ENSP00000437639.1:p.Ser590Tyr
ENST00000557933.5:c.2303C>A ENSP00000453557.1:p.Ser768Tyr
ENST00000558013.5:c.2303C>A ENSP00000453346.1:p.Ser768Tyr
ENST00000558518.5:c.2303C>A ENSP00000454071.1:p.Ser768Tyr
NM_000527.4:c.2303C>A , LRG_274t1:c.2303C>A NP_000518.1:p.Ser768Tyr
NM_001195798.1:c.2303C>A NP_001182727.1:p.Ser768Tyr
NM_001195799.1:c.2180C>A NP_001182728.1:p.Ser727Tyr
NM_001195800.1:c.1799C>A NP_001182729.1:p.Ser600Tyr
NM_001195803.1:c.1769C>A NP_001182732.1:p.Ser590Tyr
XM_011528010.1:c.2303C>A XP_011526312.1:p.Ser768Tyr
XM_011528011.1:c.1922C>A XP_011526313.1:p.Ser641Tyr
XR_244074.2:n.2313C>A
XM_011528010.2:c.2303C>A XP_011526312.1:p.Ser768Tyr
XR_001753685.2:n.2637C>A
XR_001753686.2:n.2280C>A
NM_000527.5:c.2303C>A MANE Select NP_000518.1:p.Ser768Tyr
NM_001195798.2:c.2303C>A NP_001182727.1:p.Ser768Tyr
NM_001195799.2:c.2180C>A NP_001182728.1:p.Ser727Tyr
NM_001195800.2:c.1799C>A NP_001182729.1:p.Ser600Tyr
NM_001195803.2:c.1769C>A NP_001182732.1:p.Ser590Tyr