Canonical Allele Identifier: CA037264
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369855
dbSNP Id: rs141155833

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120114T>C , CM000681.2:g.11120114T>C GRCh38
NC_000019.9:g.11230790T>C , CM000681.1:g.11230790T>C GRCh37
NC_000019.8:g.11091790T>C NCBI36
NG_009060.1:g.35734T>C , LRG_274:g.35734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2126T>C ENSP00000252444.6:p.Ile709Thr
ENST00000559340.2:c.1728T>C ENSP00000453696.2:p.Tyr576=
ENST00000560467.2:c.1748T>C ENSP00000453513.2:p.Ile583Thr
ENST00000558518.6:c.1868T>C MANE Select ENSP00000454071.1:p.Ile623Thr
ENST00000252444.9:c.2122T>C
ENST00000455727.6:c.1364T>C ENSP00000397829.2:p.Ile455Thr
ENST00000535915.5:c.1745T>C ENSP00000440520.1:p.Ile582Thr
ENST00000545707.5:c.1487T>C ENSP00000437639.1:p.Ile496Thr
ENST00000557933.5:c.1868T>C ENSP00000453557.1:p.Ile623Thr
ENST00000558013.5:c.1868T>C ENSP00000453346.1:p.Ile623Thr
ENST00000558518.5:c.1868T>C ENSP00000454071.1:p.Ile623Thr
ENST00000559340.1:c.449T>C
NM_000527.4:c.1868T>C , LRG_274t1:c.1868T>C NP_000518.1:p.Ile623Thr
NM_001195798.1:c.1868T>C NP_001182727.1:p.Ile623Thr
NM_001195799.1:c.1745T>C NP_001182728.1:p.Ile582Thr
NM_001195800.1:c.1364T>C NP_001182729.1:p.Ile455Thr
NM_001195803.1:c.1487T>C NP_001182732.1:p.Ile496Thr
XM_011528010.1:c.1868T>C XP_011526312.1:p.Ile623Thr
XM_011528011.1:c.1487T>C XP_011526313.1:p.Ile496Thr
XR_244074.2:n.1878T>C
XM_011528010.2:c.1868T>C XP_011526312.1:p.Ile623Thr
XR_001753685.2:n.1985T>C
XR_001753686.2:n.1845T>C
NM_000527.5:c.1868T>C MANE Select NP_000518.1:p.Ile623Thr
NM_001195798.2:c.1868T>C NP_001182727.1:p.Ile623Thr
NM_001195799.2:c.1745T>C NP_001182728.1:p.Ile582Thr
NM_001195800.2:c.1364T>C NP_001182729.1:p.Ile455Thr
NM_001195803.2:c.1487T>C NP_001182732.1:p.Ile496Thr