Canonical Allele Identifier: CA404093845
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1352275
ClinVar RCV Id: RCV002047476
dbSNP Id: rs1600744007

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120465A>C , CM000681.2:g.11120465A>C GRCh38
NC_000019.9:g.11231141A>C , CM000681.1:g.11231141A>C GRCh37
NC_000019.8:g.11092141A>C NCBI36
NG_009060.1:g.36085A>C , LRG_274:g.36085A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2341A>C ENSP00000252444.6:p.Thr781Pro
ENST00000559340.2:c.*152A>C ENSP00000453696.2:n.*152A>C
ENST00000560467.2:c.1963A>C ENSP00000453513.2:p.Thr655Pro
ENST00000558518.6:c.2083A>C MANE Select ENSP00000454071.1:p.Thr695Pro
ENST00000252444.9:c.2337A>C
ENST00000455727.6:c.1579A>C ENSP00000397829.2:p.Thr527Pro
ENST00000535915.5:c.1960A>C ENSP00000440520.1:p.Thr654Pro
ENST00000545707.5:c.1606+232A>C ENSP00000437639.1:n.1606+232A>C
ENST00000557933.5:c.2083A>C ENSP00000453557.1:p.Thr695Pro
ENST00000558013.5:c.2083A>C ENSP00000453346.1:p.Thr695Pro
ENST00000558518.5:c.2083A>C ENSP00000454071.1:p.Thr695Pro
NM_000527.4:c.2083A>C , LRG_274t1:c.2083A>C NP_000518.1:p.Thr695Pro
NM_001195798.1:c.2083A>C NP_001182727.1:p.Thr695Pro
NM_001195799.1:c.1960A>C NP_001182728.1:p.Thr654Pro
NM_001195800.1:c.1579A>C NP_001182729.1:p.Thr527Pro
NM_001195803.1:c.1606+232A>C NP_001182732.1:n.1606+232A>C
XM_011528010.1:c.2083A>C XP_011526312.1:p.Thr695Pro
XM_011528011.1:c.1702A>C XP_011526313.1:p.Thr568Pro
XR_244074.2:n.2093A>C
XM_011528010.2:c.2083A>C XP_011526312.1:p.Thr695Pro
XR_001753685.2:n.2200A>C
XR_001753686.2:n.2060A>C
NM_000527.5:c.2083A>C MANE Select NP_000518.1:p.Thr695Pro
NM_001195798.2:c.2083A>C NP_001182727.1:p.Thr695Pro
NM_001195799.2:c.1960A>C NP_001182728.1:p.Thr654Pro
NM_001195800.2:c.1579A>C NP_001182729.1:p.Thr527Pro
NM_001195803.2:c.1606+232A>C NP_001182732.1:n.1606+232A>C