Canonical Allele Identifier: CA034098
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251824
dbSNP Id: rs750363970

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113560G>A , CM000681.2:g.11113560G>A GRCh38
NC_000019.9:g.11224236G>A , CM000681.1:g.11224236G>A GRCh37
NC_000019.8:g.11085236G>A NCBI36
NG_009060.1:g.29180G>A , LRG_274:g.29180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1642G>A ENSP00000252444.6:p.Val548Ile
ENST00000559340.2:c.1384G>A ENSP00000453696.2:p.Val462Ile
ENST00000560467.2:c.1264G>A ENSP00000453513.2:p.Val422Ile
ENST00000558518.6:c.1384G>A MANE Select ENSP00000454071.1:p.Val462Ile
ENST00000252444.9:c.1638G>A
ENST00000455727.6:c.880G>A ENSP00000397829.2:p.Val294Ile
ENST00000535915.5:c.1261G>A ENSP00000440520.1:p.Val421Ile
ENST00000545707.5:c.1003G>A ENSP00000437639.1:p.Val335Ile
ENST00000557933.5:c.1384G>A ENSP00000453557.1:p.Val462Ile
ENST00000558013.5:c.1384G>A ENSP00000453346.1:p.Val462Ile
ENST00000558518.5:c.1384G>A ENSP00000454071.1:p.Val462Ile
ENST00000559340.1:c.105G>A
ENST00000560467.1:c.864G>A
NM_000527.4:c.1384G>A , LRG_274t1:c.1384G>A NP_000518.1:p.Val462Ile
NM_001195798.1:c.1384G>A NP_001182727.1:p.Val462Ile
NM_001195799.1:c.1261G>A NP_001182728.1:p.Val421Ile
NM_001195800.1:c.880G>A NP_001182729.1:p.Val294Ile
NM_001195803.1:c.1003G>A NP_001182732.1:p.Val335Ile
XM_011528010.1:c.1384G>A XP_011526312.1:p.Val462Ile
XM_011528011.1:c.1003G>A XP_011526313.1:p.Val335Ile
XR_244074.2:n.1534G>A
XM_011528010.2:c.1384G>A XP_011526312.1:p.Val462Ile
XR_001753685.2:n.1501G>A
XR_001753686.2:n.1501G>A
NM_000527.5:c.1384G>A MANE Select NP_000518.1:p.Val462Ile
NM_001195798.2:c.1384G>A NP_001182727.1:p.Val462Ile
NM_001195799.2:c.1261G>A NP_001182728.1:p.Val421Ile
NM_001195800.2:c.880G>A NP_001182729.1:p.Val294Ile
NM_001195803.2:c.1003G>A NP_001182732.1:p.Val335Ile