Canonical Allele Identifier: CA10585674
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252105
dbSNP Id: rs879255069

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120132T>G , CM000681.2:g.11120132T>G GRCh38
NC_000019.9:g.11230808T>G , CM000681.1:g.11230808T>G GRCh37
NC_000019.8:g.11091808T>G NCBI36
NG_009060.1:g.35752T>G , LRG_274:g.35752T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2144T>G ENSP00000252444.6:p.Phe715Cys
ENST00000559340.2:c.1746T>G ENSP00000453696.2:p.Phe582Leu
ENST00000560467.2:c.1766T>G ENSP00000453513.2:p.Phe589Cys
ENST00000558518.6:c.1886T>G MANE Select ENSP00000454071.1:p.Phe629Cys
ENST00000252444.9:c.2140T>G
ENST00000455727.6:c.1382T>G ENSP00000397829.2:p.Phe461Cys
ENST00000535915.5:c.1763T>G ENSP00000440520.1:p.Phe588Cys
ENST00000545707.5:c.1505T>G ENSP00000437639.1:p.Phe502Cys
ENST00000557933.5:c.1886T>G ENSP00000453557.1:p.Phe629Cys
ENST00000558013.5:c.1886T>G ENSP00000453346.1:p.Phe629Cys
ENST00000558518.5:c.1886T>G ENSP00000454071.1:p.Phe629Cys
ENST00000559340.1:c.467T>G
NM_000527.4:c.1886T>G , LRG_274t1:c.1886T>G NP_000518.1:p.Phe629Cys
NM_001195798.1:c.1886T>G NP_001182727.1:p.Phe629Cys
NM_001195799.1:c.1763T>G NP_001182728.1:p.Phe588Cys
NM_001195800.1:c.1382T>G NP_001182729.1:p.Phe461Cys
NM_001195803.1:c.1505T>G NP_001182732.1:p.Phe502Cys
XM_011528010.1:c.1886T>G XP_011526312.1:p.Phe629Cys
XM_011528011.1:c.1505T>G XP_011526313.1:p.Phe502Cys
XR_244074.2:n.1896T>G
XM_011528010.2:c.1886T>G XP_011526312.1:p.Phe629Cys
XR_001753685.2:n.2003T>G
XR_001753686.2:n.1863T>G
NM_000527.5:c.1886T>G MANE Select NP_000518.1:p.Phe629Cys
NM_001195798.2:c.1886T>G NP_001182727.1:p.Phe629Cys
NM_001195799.2:c.1763T>G NP_001182728.1:p.Phe588Cys
NM_001195800.2:c.1382T>G NP_001182729.1:p.Phe461Cys
NM_001195803.2:c.1505T>G NP_001182732.1:p.Phe502Cys