Canonical Allele Identifier: CA2582476277
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128124A>G , CM000681.2:g.11128124A>G GRCh38
NC_000019.9:g.11238800A>G , CM000681.1:g.11238800A>G GRCh37
NC_000019.8:g.11099800A>G NCBI36
NG_009060.1:g.43744A>G , LRG_274:g.43744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+39A>G ENSP00000252444.6:n.2647+39A>G
ENST00000559340.2:c.*458+39A>G ENSP00000453696.2:n.*458+39A>G
ENST00000560467.2:c.2269+39A>G ENSP00000453513.2:n.2269+39A>G
ENST00000558518.6:c.2389+39A>G MANE Select ENSP00000454071.1:n.2389+39A>G
ENST00000252444.9:c.2643+39A>G
ENST00000455727.6:c.1885+39A>G ENSP00000397829.2:n.1885+39A>G
ENST00000535915.5:c.2266+39A>G ENSP00000440520.1:n.2266+39A>G
ENST00000545707.5:c.1855+39A>G ENSP00000437639.1:n.1855+39A>G
ENST00000557933.5:c.2389+39A>G ENSP00000453557.1:n.2389+39A>G
ENST00000558013.5:c.2389+39A>G ENSP00000453346.1:n.2389+39A>G
ENST00000558518.5:c.2389+39A>G ENSP00000454071.1:n.2389+39A>G
ENST00000560628.1:n.108+470A>G
NM_000527.4:c.2389+39A>G , LRG_274t1:c.2389+39A>G NP_000518.1:n.2389+39A>G
NM_001195798.1:c.2389+39A>G NP_001182727.1:n.2389+39A>G
NM_001195799.1:c.2266+39A>G NP_001182728.1:n.2266+39A>G
NM_001195800.1:c.1885+39A>G NP_001182729.1:n.1885+39A>G
NM_001195803.1:c.1855+39A>G NP_001182732.1:n.1855+39A>G
XM_011528010.1:c.2312-1389A>G XP_011526312.1:n.2312-1389A>G
XM_011528011.1:c.2008+39A>G XP_011526313.1:n.2008+39A>G
XR_244074.2:n.2399+39A>G
XM_011528010.2:c.2312-1389A>G XP_011526312.1:n.2312-1389A>G
XR_001753685.2:n.2723+39A>G
XR_001753686.2:n.2366+39A>G
NM_000527.5:c.2389+39A>G MANE Select NP_000518.1:n.2389+39A>G
NM_001195798.2:c.2389+39A>G NP_001182727.1:n.2389+39A>G
NM_001195799.2:c.2266+39A>G NP_001182728.1:n.2266+39A>G
NM_001195800.2:c.1885+39A>G NP_001182729.1:n.1885+39A>G
NM_001195803.2:c.1855+39A>G NP_001182732.1:n.1855+39A>G