Canonical Allele Identifier: CA404096853
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128064C>A , CM000681.2:g.11128064C>A GRCh38
NC_000019.9:g.11238740C>A , CM000681.1:g.11238740C>A GRCh37
NC_000019.8:g.11099740C>A NCBI36
NG_009060.1:g.43684C>A , LRG_274:g.43684C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2626C>A ENSP00000252444.6:p.Leu876Met
ENST00000559340.2:c.*437C>A ENSP00000453696.2:n.*437C>A
ENST00000560467.2:c.2248C>A ENSP00000453513.2:p.Leu750Met
ENST00000558518.6:c.2368C>A MANE Select ENSP00000454071.1:p.Leu790Met
ENST00000252444.9:c.2622C>A
ENST00000455727.6:c.1864C>A ENSP00000397829.2:p.Leu622Met
ENST00000535915.5:c.2245C>A ENSP00000440520.1:p.Leu749Met
ENST00000545707.5:c.1834C>A ENSP00000437639.1:p.Leu612Met
ENST00000557933.5:c.2368C>A ENSP00000453557.1:p.Leu790Met
ENST00000558013.5:c.2368C>A ENSP00000453346.1:p.Leu790Met
ENST00000558518.5:c.2368C>A ENSP00000454071.1:p.Leu790Met
ENST00000560628.1:n.108+410C>A
NM_000527.4:c.2368C>A , LRG_274t1:c.2368C>A NP_000518.1:p.Leu790Met
NM_001195798.1:c.2368C>A NP_001182727.1:p.Leu790Met
NM_001195799.1:c.2245C>A NP_001182728.1:p.Leu749Met
NM_001195800.1:c.1864C>A NP_001182729.1:p.Leu622Met
NM_001195803.1:c.1834C>A NP_001182732.1:p.Leu612Met
XM_011528010.1:c.2312-1449C>A XP_011526312.1:n.2312-1449C>A
XM_011528011.1:c.1987C>A XP_011526313.1:p.Leu663Met
XR_244074.2:n.2378C>A
XM_011528010.2:c.2312-1449C>A XP_011526312.1:n.2312-1449C>A
XR_001753685.2:n.2702C>A
XR_001753686.2:n.2345C>A
NM_000527.5:c.2368C>A MANE Select NP_000518.1:p.Leu790Met
NM_001195798.2:c.2368C>A NP_001182727.1:p.Leu790Met
NM_001195799.2:c.2245C>A NP_001182728.1:p.Leu749Met
NM_001195800.2:c.1864C>A NP_001182729.1:p.Leu622Met
NM_001195803.2:c.1834C>A NP_001182732.1:p.Leu612Met