Canonical Allele Identifier: CA10585177
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251504
dbSNP Id: rs879254708

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107462C>A , CM000681.2:g.11107462C>A GRCh38
NC_000019.9:g.11218138C>A , CM000681.1:g.11218138C>A GRCh37
NC_000019.8:g.11079138C>A NCBI36
NG_009060.1:g.23082C>A , LRG_274:g.23082C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1146C>A ENSP00000252444.6:p.Cys382Ter
ENST00000559340.2:c.888C>A ENSP00000453696.2:p.Cys296Ter
ENST00000560467.2:c.888C>A ENSP00000453513.2:p.Cys296Ter
ENST00000558518.6:c.888C>A MANE Select ENSP00000454071.1:p.Cys296Ter
ENST00000252444.9:c.1142C>A
ENST00000455727.6:c.384C>A ENSP00000397829.2:p.Cys128Ter
ENST00000535915.5:c.765C>A ENSP00000440520.1:p.Cys255Ter
ENST00000545707.5:c.507C>A ENSP00000437639.1:p.Cys169Ter
ENST00000557933.5:c.888C>A ENSP00000453557.1:p.Cys296Ter
ENST00000558013.5:c.888C>A ENSP00000453346.1:p.Cys296Ter
ENST00000558518.5:c.888C>A ENSP00000454071.1:p.Cys296Ter
ENST00000558528.1:n.403C>A
ENST00000560467.1:c.488C>A
NM_000527.4:c.888C>A , LRG_274t1:c.888C>A NP_000518.1:p.Cys296Ter
NM_001195798.1:c.888C>A NP_001182727.1:p.Cys296Ter
NM_001195799.1:c.765C>A NP_001182728.1:p.Cys255Ter
NM_001195800.1:c.384C>A NP_001182729.1:p.Cys128Ter
NM_001195803.1:c.507C>A NP_001182732.1:p.Cys169Ter
XM_011528010.1:c.888C>A XP_011526312.1:p.Cys296Ter
XM_011528011.1:c.507C>A XP_011526313.1:p.Cys169Ter
XR_244074.2:n.1038C>A
XM_011528010.2:c.888C>A XP_011526312.1:p.Cys296Ter
XR_001753685.2:n.1005C>A
XR_001753686.2:n.1005C>A
NM_000527.5:c.888C>A MANE Select NP_000518.1:p.Cys296Ter
NM_001195798.2:c.888C>A NP_001182727.1:p.Cys296Ter
NM_001195799.2:c.765C>A NP_001182728.1:p.Cys255Ter
NM_001195800.2:c.384C>A NP_001182729.1:p.Cys128Ter
NM_001195803.2:c.507C>A NP_001182732.1:p.Cys169Ter