Canonical Allele Identifier: CA030215
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251540
dbSNP Id: rs13306512

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107513C>G , CM000681.2:g.11107513C>G GRCh38
NC_000019.9:g.11218189C>G , CM000681.1:g.11218189C>G GRCh37
NC_000019.8:g.11079189C>G NCBI36
NG_009060.1:g.23133C>G , LRG_274:g.23133C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1197C>G ENSP00000252444.6:p.Cys399Trp
ENST00000559340.2:c.939C>G ENSP00000453696.2:p.Cys313Trp
ENST00000560467.2:c.939C>G ENSP00000453513.2:p.Cys313Trp
ENST00000558518.6:c.939C>G MANE Select ENSP00000454071.1:p.Cys313Trp
ENST00000252444.9:c.1193C>G
ENST00000455727.6:c.435C>G ENSP00000397829.2:p.Cys145Trp
ENST00000535915.5:c.816C>G ENSP00000440520.1:p.Cys272Trp
ENST00000545707.5:c.558C>G ENSP00000437639.1:p.Cys186Trp
ENST00000557933.5:c.939C>G ENSP00000453557.1:p.Cys313Trp
ENST00000558013.5:c.939C>G ENSP00000453346.1:p.Cys313Trp
ENST00000558518.5:c.939C>G ENSP00000454071.1:p.Cys313Trp
ENST00000558528.1:n.454C>G
ENST00000560467.1:c.539C>G
NM_000527.4:c.939C>G , LRG_274t1:c.939C>G NP_000518.1:p.Cys313Trp
NM_001195798.1:c.939C>G NP_001182727.1:p.Cys313Trp
NM_001195799.1:c.816C>G NP_001182728.1:p.Cys272Trp
NM_001195800.1:c.435C>G NP_001182729.1:p.Cys145Trp
NM_001195803.1:c.558C>G NP_001182732.1:p.Cys186Trp
XM_011528010.1:c.939C>G XP_011526312.1:p.Cys313Trp
XM_011528011.1:c.558C>G XP_011526313.1:p.Cys186Trp
XR_244074.2:n.1089C>G
XM_011528010.2:c.939C>G XP_011526312.1:p.Cys313Trp
XR_001753685.2:n.1056C>G
XR_001753686.2:n.1056C>G
NM_000527.5:c.939C>G MANE Select NP_000518.1:p.Cys313Trp
NM_001195798.2:c.939C>G NP_001182727.1:p.Cys313Trp
NM_001195799.2:c.816C>G NP_001182728.1:p.Cys272Trp
NM_001195800.2:c.435C>G NP_001182729.1:p.Cys145Trp
NM_001195803.2:c.558C>G NP_001182732.1:p.Cys186Trp