Canonical Allele Identifier: CA10585473
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251863
ClinVar RCV Id: RCV000238379 RCV002392742
dbSNP Id: rs879254917
gnomAD v4: 19-11113648-C-A
MyVariant Identifiers: chr19:g.11224324C>A (hg19) chr19:g.11113648C>A (hg38)
PubMed: PMID:23375686
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113648C>A , CM000681.2:g.11113648C>A GRCh38
NC_000019.9:g.11224324C>A , CM000681.1:g.11224324C>A GRCh37
NC_000019.8:g.11085324C>A NCBI36
NG_009060.1:g.29268C>A , LRG_274:g.29268C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1730C>A ENSP00000252444.6:p.Thr577Asn
ENST00000559340.2:c.1472C>A ENSP00000453696.2:p.Thr491Asn
ENST00000560467.2:c.1352C>A ENSP00000453513.2:p.Thr451Asn
ENST00000558518.6:c.1472C>A MANE Select ENSP00000454071.1:p.Thr491Asn
ENST00000252444.9:c.1726C>A
ENST00000455727.6:c.968C>A ENSP00000397829.2:p.Thr323Asn
ENST00000535915.5:c.1349C>A ENSP00000440520.1:p.Thr450Asn
ENST00000545707.5:c.1091C>A ENSP00000437639.1:p.Thr364Asn
ENST00000557933.5:c.1472C>A ENSP00000453557.1:p.Thr491Asn
ENST00000558013.5:c.1472C>A ENSP00000453346.1:p.Thr491Asn
ENST00000558518.5:c.1472C>A ENSP00000454071.1:p.Thr491Asn
ENST00000559340.1:c.193C>A
NM_000527.4:c.1472C>A , LRG_274t1:c.1472C>A NP_000518.1:p.Thr491Asn
NM_001195798.1:c.1472C>A NP_001182727.1:p.Thr491Asn
NM_001195799.1:c.1349C>A NP_001182728.1:p.Thr450Asn
NM_001195800.1:c.968C>A NP_001182729.1:p.Thr323Asn
NM_001195803.1:c.1091C>A NP_001182732.1:p.Thr364Asn
XM_011528010.1:c.1472C>A XP_011526312.1:p.Thr491Asn
XM_011528011.1:c.1091C>A XP_011526313.1:p.Thr364Asn
XR_244074.2:n.1622C>A
XM_011528010.2:c.1472C>A XP_011526312.1:p.Thr491Asn
XR_001753685.2:n.1589C>A
XR_001753686.2:n.1589C>A
NM_000527.5:c.1472C>A MANE Select NP_000518.1:p.Thr491Asn
NM_001195798.2:c.1472C>A NP_001182727.1:p.Thr491Asn
NM_001195799.2:c.1349C>A NP_001182728.1:p.Thr450Asn
NM_001195800.2:c.968C>A NP_001182729.1:p.Thr323Asn
NM_001195803.2:c.1091C>A NP_001182732.1:p.Thr364Asn
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