Canonical Allele Identifier: CA404098416
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077686522

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129533C>A , CM000681.2:g.11129533C>A GRCh38
NC_000019.9:g.11240209C>A , CM000681.1:g.11240209C>A GRCh37
NC_000019.8:g.11101209C>A NCBI36
NG_009060.1:g.45153C>A , LRG_274:g.45153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2668C>A ENSP00000252444.6:p.Leu890Met
ENST00000559340.2:c.*479C>A ENSP00000453696.2:n.*479C>A
ENST00000560467.2:c.2290C>A ENSP00000453513.2:p.Leu764Met
ENST00000558518.6:c.2410C>A MANE Select ENSP00000454071.1:p.Leu804Met
ENST00000252444.9:c.2664C>A
ENST00000455727.6:c.1906C>A ENSP00000397829.2:p.Leu636Met
ENST00000535915.5:c.2287C>A ENSP00000440520.1:p.Leu763Met
ENST00000545707.5:c.1876C>A ENSP00000437639.1:p.Leu626Met
ENST00000557933.5:c.2472C>A ENSP00000453557.1:p.Ala824=
ENST00000558013.5:c.2410C>A ENSP00000453346.1:p.Leu804Met
ENST00000558518.5:c.2410C>A ENSP00000454071.1:p.Leu804Met
ENST00000560628.1:n.108+1879C>A
NM_000527.4:c.2410C>A , LRG_274t1:c.2410C>A NP_000518.1:p.Leu804Met
NM_001195798.1:c.2410C>A NP_001182727.1:p.Leu804Met
NM_001195799.1:c.2287C>A NP_001182728.1:p.Leu763Met
NM_001195800.1:c.1906C>A NP_001182729.1:p.Leu636Met
NM_001195803.1:c.1876C>A NP_001182732.1:p.Leu626Met
XM_011528010.1:c.2332C>A XP_011526312.1:p.Leu778Met
XM_011528011.1:c.2029C>A XP_011526313.1:p.Leu677Met
XR_244074.2:n.2420C>A
XM_011528010.2:c.2332C>A XP_011526312.1:p.Leu778Met
XR_001753685.2:n.2744C>A
XR_001753686.2:n.2387C>A
NM_000527.5:c.2410C>A MANE Select NP_000518.1:p.Leu804Met
NM_001195798.2:c.2410C>A NP_001182727.1:p.Leu804Met
NM_001195799.2:c.2287C>A NP_001182728.1:p.Leu763Met
NM_001195800.2:c.1906C>A NP_001182729.1:p.Leu636Met
NM_001195803.2:c.1876C>A NP_001182732.1:p.Leu626Met