Canonical Allele Identifier: CA404086381
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922705
ClinVar RCV Id: RCV001182893
dbSNP Id: rs879254920

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113665A>G , CM000681.2:g.11113665A>G GRCh38
NC_000019.9:g.11224341A>G , CM000681.1:g.11224341A>G GRCh37
NC_000019.8:g.11085341A>G NCBI36
NG_009060.1:g.29285A>G , LRG_274:g.29285A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1747A>G ENSP00000252444.6:p.Thr583Ala
ENST00000559340.2:c.1489A>G ENSP00000453696.2:p.Thr497Ala
ENST00000560467.2:c.1369A>G ENSP00000453513.2:p.Thr457Ala
ENST00000558518.6:c.1489A>G MANE Select ENSP00000454071.1:p.Thr497Ala
ENST00000252444.9:c.1743A>G
ENST00000455727.6:c.985A>G ENSP00000397829.2:p.Thr329Ala
ENST00000535915.5:c.1366A>G ENSP00000440520.1:p.Thr456Ala
ENST00000545707.5:c.1108A>G ENSP00000437639.1:p.Thr370Ala
ENST00000557933.5:c.1489A>G ENSP00000453557.1:p.Thr497Ala
ENST00000558013.5:c.1489A>G ENSP00000453346.1:p.Thr497Ala
ENST00000558518.5:c.1489A>G ENSP00000454071.1:p.Thr497Ala
ENST00000559340.1:c.210A>G
NM_000527.4:c.1489A>G , LRG_274t1:c.1489A>G NP_000518.1:p.Thr497Ala
NM_001195798.1:c.1489A>G NP_001182727.1:p.Thr497Ala
NM_001195799.1:c.1366A>G NP_001182728.1:p.Thr456Ala
NM_001195800.1:c.985A>G NP_001182729.1:p.Thr329Ala
NM_001195803.1:c.1108A>G NP_001182732.1:p.Thr370Ala
XM_011528010.1:c.1489A>G XP_011526312.1:p.Thr497Ala
XM_011528011.1:c.1108A>G XP_011526313.1:p.Thr370Ala
XR_244074.2:n.1639A>G
XM_011528010.2:c.1489A>G XP_011526312.1:p.Thr497Ala
XR_001753685.2:n.1606A>G
XR_001753686.2:n.1606A>G
NM_000527.5:c.1489A>G MANE Select NP_000518.1:p.Thr497Ala
NM_001195798.2:c.1489A>G NP_001182727.1:p.Thr497Ala
NM_001195799.2:c.1366A>G NP_001182728.1:p.Thr456Ala
NM_001195800.2:c.985A>G NP_001182729.1:p.Thr329Ala
NM_001195803.2:c.1108A>G NP_001182732.1:p.Thr370Ala