Canonical Allele Identifier: CA10585870
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252343
ClinVar RCV Id: RCV000238350 RCV001182071 RCV002446481 RCV003736672
dbSNP Id: rs879255217
gnomAD v4: 19-11129599-C-A
MyVariant Identifiers: chr19:g.11240275C>A (hg19) chr19:g.11129599C>A (hg38)
PubMed: PMID:23669246
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129599C>A , CM000681.2:g.11129599C>A GRCh38
NC_000019.9:g.11240275C>A , CM000681.1:g.11240275C>A GRCh37
NC_000019.8:g.11101275C>A NCBI36
NG_009060.1:g.45219C>A , LRG_274:g.45219C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2734C>A ENSP00000252444.6:p.Pro912Thr
ENST00000559340.2:c.*545C>A ENSP00000453696.2:n.*545C>A
ENST00000560467.2:c.2356C>A ENSP00000453513.2:p.Pro786Thr
ENST00000558518.6:c.2476C>A MANE Select ENSP00000454071.1:p.Pro826Thr
ENST00000252444.9:c.2730C>A
ENST00000455727.6:c.1972C>A ENSP00000397829.2:p.Pro658Thr
ENST00000535915.5:c.2353C>A ENSP00000440520.1:p.Pro785Thr
ENST00000545707.5:c.1942C>A ENSP00000437639.1:p.Pro648Thr
ENST00000557933.5:c.2538C>A ENSP00000453557.1:p.Thr846=
ENST00000558013.5:c.2476C>A ENSP00000453346.1:p.Pro826Thr
ENST00000558518.5:c.2476C>A ENSP00000454071.1:p.Pro826Thr
ENST00000560628.1:n.108+1945C>A
NM_000527.4:c.2476C>A , LRG_274t1:c.2476C>A NP_000518.1:p.Pro826Thr
NM_001195798.1:c.2476C>A NP_001182727.1:p.Pro826Thr
NM_001195799.1:c.2353C>A NP_001182728.1:p.Pro785Thr
NM_001195800.1:c.1972C>A NP_001182729.1:p.Pro658Thr
NM_001195803.1:c.1942C>A NP_001182732.1:p.Pro648Thr
XM_011528010.1:c.2398C>A XP_011526312.1:p.Pro800Thr
XM_011528011.1:c.2095C>A XP_011526313.1:p.Pro699Thr
XM_011528010.2:c.2398C>A XP_011526312.1:p.Pro800Thr
XR_001753685.2:n.2810C>A
XR_001753686.2:n.2453C>A
NM_000527.5:c.2476C>A MANE Select NP_000518.1:p.Pro826Thr
NM_001195798.2:c.2476C>A NP_001182727.1:p.Pro826Thr
NM_001195799.2:c.2353C>A NP_001182728.1:p.Pro785Thr
NM_001195800.2:c.1972C>A NP_001182729.1:p.Pro658Thr
NM_001195803.2:c.1942C>A NP_001182732.1:p.Pro648Thr
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