Canonical Allele Identifier: CA404096840
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128060G>C , CM000681.2:g.11128060G>C GRCh38
NC_000019.9:g.11238736G>C , CM000681.1:g.11238736G>C GRCh37
NC_000019.8:g.11099736G>C NCBI36
NG_009060.1:g.43680G>C , LRG_274:g.43680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2622G>C ENSP00000252444.6:p.Arg874Ser
ENST00000559340.2:c.*433G>C ENSP00000453696.2:n.*433G>C
ENST00000560467.2:c.2244G>C ENSP00000453513.2:p.Arg748Ser
ENST00000558518.6:c.2364G>C MANE Select ENSP00000454071.1:p.Arg788Ser
ENST00000252444.9:c.2618G>C
ENST00000455727.6:c.1860G>C ENSP00000397829.2:p.Arg620Ser
ENST00000535915.5:c.2241G>C ENSP00000440520.1:p.Arg747Ser
ENST00000545707.5:c.1830G>C ENSP00000437639.1:p.Arg610Ser
ENST00000557933.5:c.2364G>C ENSP00000453557.1:p.Arg788Ser
ENST00000558013.5:c.2364G>C ENSP00000453346.1:p.Arg788Ser
ENST00000558518.5:c.2364G>C ENSP00000454071.1:p.Arg788Ser
ENST00000560628.1:n.108+406G>C
NM_000527.4:c.2364G>C , LRG_274t1:c.2364G>C NP_000518.1:p.Arg788Ser
NM_001195798.1:c.2364G>C NP_001182727.1:p.Arg788Ser
NM_001195799.1:c.2241G>C NP_001182728.1:p.Arg747Ser
NM_001195800.1:c.1860G>C NP_001182729.1:p.Arg620Ser
NM_001195803.1:c.1830G>C NP_001182732.1:p.Arg610Ser
XM_011528010.1:c.2312-1453G>C XP_011526312.1:n.2312-1453G>C
XM_011528011.1:c.1983G>C XP_011526313.1:p.Arg661Ser
XR_244074.2:n.2374G>C
XM_011528010.2:c.2312-1453G>C XP_011526312.1:n.2312-1453G>C
XR_001753685.2:n.2698G>C
XR_001753686.2:n.2341G>C
NM_000527.5:c.2364G>C MANE Select NP_000518.1:p.Arg788Ser
NM_001195798.2:c.2364G>C NP_001182727.1:p.Arg788Ser
NM_001195799.2:c.2241G>C NP_001182728.1:p.Arg747Ser
NM_001195800.2:c.1860G>C NP_001182729.1:p.Arg620Ser
NM_001195803.2:c.1830G>C NP_001182732.1:p.Arg610Ser