Canonical Allele Identifier: CA404078112
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs879254604

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105544G>T , CM000681.2:g.11105544G>T GRCh38
NC_000019.9:g.11216220G>T , CM000681.1:g.11216220G>T GRCh37
NC_000019.8:g.11077220G>T NCBI36
NG_009060.1:g.21164G>T , LRG_274:g.21164G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.896G>T ENSP00000252444.6:p.Ser299Ile
ENST00000559340.2:c.638G>T ENSP00000453696.2:p.Ser213Ile
ENST00000560467.2:c.638G>T ENSP00000453513.2:p.Ser213Ile
ENST00000558518.6:c.638G>T MANE Select ENSP00000454071.1:p.Ser213Ile
ENST00000252444.9:c.892G>T
ENST00000455727.6:c.314-1848G>T ENSP00000397829.2:n.314-1848G>T
ENST00000535915.5:c.515G>T ENSP00000440520.1:p.Ser172Ile
ENST00000545707.5:c.314-1021G>T ENSP00000437639.1:n.314-1021G>T
ENST00000557933.5:c.638G>T ENSP00000453557.1:p.Ser213Ile
ENST00000558013.5:c.638G>T ENSP00000453346.1:p.Ser213Ile
ENST00000558518.5:c.638G>T ENSP00000454071.1:p.Ser213Ile
ENST00000560467.1:c.238G>T
NM_000527.4:c.638G>T , LRG_274t1:c.638G>T NP_000518.1:p.Ser213Ile
NM_001195798.1:c.638G>T NP_001182727.1:p.Ser213Ile
NM_001195799.1:c.515G>T NP_001182728.1:p.Ser172Ile
NM_001195800.1:c.314-1848G>T NP_001182729.1:n.314-1848G>T
NM_001195803.1:c.314-1021G>T NP_001182732.1:n.314-1021G>T
XM_011528010.1:c.638G>T XP_011526312.1:p.Ser213Ile
XM_011528011.1:c.314-1021G>T XP_011526313.1:n.314-1021G>T
XR_244074.2:n.788G>T
XM_011528010.2:c.638G>T XP_011526312.1:p.Ser213Ile
XR_001753685.2:n.755G>T
XR_001753686.2:n.755G>T
NM_000527.5:c.638G>T MANE Select NP_000518.1:p.Ser213Ile
NM_001195798.2:c.638G>T NP_001182727.1:p.Ser213Ile
NM_001195799.2:c.515G>T NP_001182728.1:p.Ser172Ile
NM_001195800.2:c.314-1848G>T NP_001182729.1:n.314-1848G>T
NM_001195803.2:c.314-1021G>T NP_001182732.1:n.314-1021G>T