Canonical Allele Identifier: CA404085164
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1193598969

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113410G>C , CM000681.2:g.11113410G>C GRCh38
NC_000019.9:g.11224086G>C , CM000681.1:g.11224086G>C GRCh37
NC_000019.8:g.11085086G>C NCBI36
NG_009060.1:g.29030G>C , LRG_274:g.29030G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1577G>C ENSP00000252444.6:p.Arg526Thr
ENST00000559340.2:c.1319G>C ENSP00000453696.2:p.Arg440Thr
ENST00000560467.2:c.1199G>C ENSP00000453513.2:p.Arg400Thr
ENST00000558518.6:c.1319G>C MANE Select ENSP00000454071.1:p.Arg440Thr
ENST00000252444.9:c.1573G>C
ENST00000455727.6:c.815G>C ENSP00000397829.2:p.Arg272Thr
ENST00000535915.5:c.1196G>C ENSP00000440520.1:p.Arg399Thr
ENST00000545707.5:c.938G>C ENSP00000437639.1:p.Arg313Thr
ENST00000557933.5:c.1319G>C ENSP00000453557.1:p.Arg440Thr
ENST00000558013.5:c.1319G>C ENSP00000453346.1:p.Arg440Thr
ENST00000558518.5:c.1319G>C ENSP00000454071.1:p.Arg440Thr
ENST00000559340.1:c.40G>C
ENST00000560173.1:n.318G>C
ENST00000560467.1:c.799G>C
NM_000527.4:c.1319G>C , LRG_274t1:c.1319G>C NP_000518.1:p.Arg440Thr
NM_001195798.1:c.1319G>C NP_001182727.1:p.Arg440Thr
NM_001195799.1:c.1196G>C NP_001182728.1:p.Arg399Thr
NM_001195800.1:c.815G>C NP_001182729.1:p.Arg272Thr
NM_001195803.1:c.938G>C NP_001182732.1:p.Arg313Thr
XM_011528010.1:c.1319G>C XP_011526312.1:p.Arg440Thr
XM_011528011.1:c.938G>C XP_011526313.1:p.Arg313Thr
XR_244074.2:n.1469G>C
XM_011528010.2:c.1319G>C XP_011526312.1:p.Arg440Thr
XR_001753685.2:n.1436G>C
XR_001753686.2:n.1436G>C
NM_000527.5:c.1319G>C MANE Select NP_000518.1:p.Arg440Thr
NM_001195798.2:c.1319G>C NP_001182727.1:p.Arg440Thr
NM_001195799.2:c.1196G>C NP_001182728.1:p.Arg399Thr
NM_001195800.2:c.815G>C NP_001182729.1:p.Arg272Thr
NM_001195803.2:c.938G>C NP_001182732.1:p.Arg313Thr