Canonical Allele Identifier: CA10585190
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251519
ClinVar RCV Id: RCV000238083
dbSNP Id: rs879254717

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107488G>C , CM000681.2:g.11107488G>C GRCh38
NC_000019.9:g.11218164G>C , CM000681.1:g.11218164G>C GRCh37
NC_000019.8:g.11079164G>C NCBI36
NG_009060.1:g.23108G>C , LRG_274:g.23108G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1172G>C ENSP00000252444.6:p.Trp391Ser
ENST00000559340.2:c.914G>C ENSP00000453696.2:p.Trp305Ser
ENST00000560467.2:c.914G>C ENSP00000453513.2:p.Trp305Ser
ENST00000558518.6:c.914G>C MANE Select ENSP00000454071.1:p.Trp305Ser
ENST00000252444.9:c.1168G>C
ENST00000455727.6:c.410G>C ENSP00000397829.2:p.Trp137Ser
ENST00000535915.5:c.791G>C ENSP00000440520.1:p.Trp264Ser
ENST00000545707.5:c.533G>C ENSP00000437639.1:p.Trp178Ser
ENST00000557933.5:c.914G>C ENSP00000453557.1:p.Trp305Ser
ENST00000558013.5:c.914G>C ENSP00000453346.1:p.Trp305Ser
ENST00000558518.5:c.914G>C ENSP00000454071.1:p.Trp305Ser
ENST00000558528.1:n.429G>C
ENST00000560467.1:c.514G>C
NM_000527.4:c.914G>C , LRG_274t1:c.914G>C NP_000518.1:p.Trp305Ser
NM_001195798.1:c.914G>C NP_001182727.1:p.Trp305Ser
NM_001195799.1:c.791G>C NP_001182728.1:p.Trp264Ser
NM_001195800.1:c.410G>C NP_001182729.1:p.Trp137Ser
NM_001195803.1:c.533G>C NP_001182732.1:p.Trp178Ser
XM_011528010.1:c.914G>C XP_011526312.1:p.Trp305Ser
XM_011528011.1:c.533G>C XP_011526313.1:p.Trp178Ser
XR_244074.2:n.1064G>C
XM_011528010.2:c.914G>C XP_011526312.1:p.Trp305Ser
XR_001753685.2:n.1031G>C
XR_001753686.2:n.1031G>C
NM_000527.5:c.914G>C MANE Select NP_000518.1:p.Trp305Ser
NM_001195798.2:c.914G>C NP_001182727.1:p.Trp305Ser
NM_001195799.2:c.791G>C NP_001182728.1:p.Trp264Ser
NM_001195800.2:c.410G>C NP_001182729.1:p.Trp137Ser
NM_001195803.2:c.533G>C NP_001182732.1:p.Trp178Ser