Canonical Allele Identifier: CA404089669
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1360085583

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116871G>A , CM000681.2:g.11116871G>A GRCh38
NC_000019.9:g.11227547G>A , CM000681.1:g.11227547G>A GRCh37
NC_000019.8:g.11088547G>A NCBI36
NG_009060.1:g.32491G>A , LRG_274:g.32491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1976G>A ENSP00000252444.6:p.Gly659Asp
ENST00000559340.2:c.1705+659G>A ENSP00000453696.2:n.1705+659G>A
ENST00000560467.2:c.1598G>A ENSP00000453513.2:p.Gly533Asp
ENST00000558518.6:c.1718G>A MANE Select ENSP00000454071.1:p.Gly573Asp
ENST00000252444.9:c.1972G>A
ENST00000455727.6:c.1214G>A ENSP00000397829.2:p.Gly405Asp
ENST00000535915.5:c.1595G>A ENSP00000440520.1:p.Gly532Asp
ENST00000545707.5:c.1337G>A ENSP00000437639.1:p.Gly446Asp
ENST00000557933.5:c.1718G>A ENSP00000453557.1:p.Gly573Asp
ENST00000558013.5:c.1718G>A ENSP00000453346.1:p.Gly573Asp
ENST00000558518.5:c.1718G>A ENSP00000454071.1:p.Gly573Asp
ENST00000559340.1:c.426+659G>A
NM_000527.4:c.1718G>A , LRG_274t1:c.1718G>A NP_000518.1:p.Gly573Asp
NM_001195798.1:c.1718G>A NP_001182727.1:p.Gly573Asp
NM_001195799.1:c.1595G>A NP_001182728.1:p.Gly532Asp
NM_001195800.1:c.1214G>A NP_001182729.1:p.Gly405Asp
NM_001195803.1:c.1337G>A NP_001182732.1:p.Gly446Asp
XM_011528010.1:c.1718G>A XP_011526312.1:p.Gly573Asp
XM_011528011.1:c.1337G>A XP_011526313.1:p.Gly446Asp
XR_244074.2:n.1855+659G>A
XM_011528010.2:c.1718G>A XP_011526312.1:p.Gly573Asp
XR_001753685.2:n.1835G>A
XR_001753686.2:n.1822+659G>A
NM_000527.5:c.1718G>A MANE Select NP_000518.1:p.Gly573Asp
NM_001195798.2:c.1718G>A NP_001182727.1:p.Gly573Asp
NM_001195799.2:c.1595G>A NP_001182728.1:p.Gly532Asp
NM_001195800.2:c.1214G>A NP_001182729.1:p.Gly405Asp
NM_001195803.2:c.1337G>A NP_001182732.1:p.Gly446Asp