Canonical Allele Identifier: CA404093750
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120447C>A , CM000681.2:g.11120447C>A GRCh38
NC_000019.9:g.11231123C>A , CM000681.1:g.11231123C>A GRCh37
NC_000019.8:g.11092123C>A NCBI36
NG_009060.1:g.36067C>A , LRG_274:g.36067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2323C>A ENSP00000252444.6:p.Pro775Thr
ENST00000559340.2:c.*134C>A ENSP00000453696.2:n.*134C>A
ENST00000560467.2:c.1945C>A ENSP00000453513.2:p.Pro649Thr
ENST00000558518.6:c.2065C>A MANE Select ENSP00000454071.1:p.Pro689Thr
ENST00000252444.9:c.2319C>A
ENST00000455727.6:c.1561C>A ENSP00000397829.2:p.Pro521Thr
ENST00000535915.5:c.1942C>A ENSP00000440520.1:p.Pro648Thr
ENST00000545707.5:c.1606+214C>A ENSP00000437639.1:n.1606+214C>A
ENST00000557933.5:c.2065C>A ENSP00000453557.1:p.Pro689Thr
ENST00000558013.5:c.2065C>A ENSP00000453346.1:p.Pro689Thr
ENST00000558518.5:c.2065C>A ENSP00000454071.1:p.Pro689Thr
NM_000527.4:c.2065C>A , LRG_274t1:c.2065C>A NP_000518.1:p.Pro689Thr
NM_001195798.1:c.2065C>A NP_001182727.1:p.Pro689Thr
NM_001195799.1:c.1942C>A NP_001182728.1:p.Pro648Thr
NM_001195800.1:c.1561C>A NP_001182729.1:p.Pro521Thr
NM_001195803.1:c.1606+214C>A NP_001182732.1:n.1606+214C>A
XM_011528010.1:c.2065C>A XP_011526312.1:p.Pro689Thr
XM_011528011.1:c.1684C>A XP_011526313.1:p.Pro562Thr
XR_244074.2:n.2075C>A
XM_011528010.2:c.2065C>A XP_011526312.1:p.Pro689Thr
XR_001753685.2:n.2182C>A
XR_001753686.2:n.2042C>A
NM_000527.5:c.2065C>A MANE Select NP_000518.1:p.Pro689Thr
NM_001195798.2:c.2065C>A NP_001182727.1:p.Pro689Thr
NM_001195799.2:c.1942C>A NP_001182728.1:p.Pro648Thr
NM_001195800.2:c.1561C>A NP_001182729.1:p.Pro521Thr
NM_001195803.2:c.1606+214C>A NP_001182732.1:n.1606+214C>A