Canonical Allele Identifier: CA032391
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251699
dbSNP Id: rs750649426

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111629C>A , CM000681.2:g.11111629C>A GRCh38
NC_000019.9:g.11222305C>A , CM000681.1:g.11222305C>A GRCh37
NC_000019.8:g.11083305C>A NCBI36
NG_009060.1:g.27249C>A , LRG_274:g.27249C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1434C>A ENSP00000252444.6:p.Cys478Ter
ENST00000559340.2:c.1176C>A ENSP00000453696.2:p.Cys392Ter
ENST00000560467.2:c.1056C>A ENSP00000453513.2:p.Cys352Ter
ENST00000558518.6:c.1176C>A MANE Select ENSP00000454071.1:p.Cys392Ter
ENST00000252444.9:c.1430C>A
ENST00000455727.6:c.672C>A ENSP00000397829.2:p.Cys224Ter
ENST00000535915.5:c.1053C>A ENSP00000440520.1:p.Cys351Ter
ENST00000545707.5:c.795C>A ENSP00000437639.1:p.Cys265Ter
ENST00000557933.5:c.1176C>A ENSP00000453557.1:p.Cys392Ter
ENST00000558013.5:c.1176C>A ENSP00000453346.1:p.Cys392Ter
ENST00000558518.5:c.1176C>A ENSP00000454071.1:p.Cys392Ter
ENST00000560173.1:n.175C>A
ENST00000560467.1:c.656C>A
NM_000527.4:c.1176C>A , LRG_274t1:c.1176C>A NP_000518.1:p.Cys392Ter
NM_001195798.1:c.1176C>A NP_001182727.1:p.Cys392Ter
NM_001195799.1:c.1053C>A NP_001182728.1:p.Cys351Ter
NM_001195800.1:c.672C>A NP_001182729.1:p.Cys224Ter
NM_001195803.1:c.795C>A NP_001182732.1:p.Cys265Ter
XM_011528010.1:c.1176C>A XP_011526312.1:p.Cys392Ter
XM_011528011.1:c.795C>A XP_011526313.1:p.Cys265Ter
XR_244074.2:n.1326C>A
XM_011528010.2:c.1176C>A XP_011526312.1:p.Cys392Ter
XR_001753685.2:n.1293C>A
XR_001753686.2:n.1293C>A
NM_000527.5:c.1176C>A MANE Select NP_000518.1:p.Cys392Ter
NM_001195798.2:c.1176C>A NP_001182727.1:p.Cys392Ter
NM_001195799.2:c.1053C>A NP_001182728.1:p.Cys351Ter
NM_001195800.2:c.672C>A NP_001182729.1:p.Cys224Ter
NM_001195803.2:c.795C>A NP_001182732.1:p.Cys265Ter