Canonical Allele Identifier: CA10576324
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226377
ClinVar RCV Id: RCV000211614
dbSNP Id: rs875989934

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120126C>A , CM000681.2:g.11120126C>A GRCh38
NC_000019.9:g.11230802C>A , CM000681.1:g.11230802C>A GRCh37
NC_000019.8:g.11091802C>A NCBI36
NG_009060.1:g.35746C>A , LRG_274:g.35746C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2138C>A ENSP00000252444.6:p.Ala713Asp
ENST00000559340.2:c.1740C>A ENSP00000453696.2:p.Ser580Arg
ENST00000560467.2:c.1760C>A ENSP00000453513.2:p.Ala587Asp
ENST00000558518.6:c.1880C>A MANE Select ENSP00000454071.1:p.Ala627Asp
ENST00000252444.9:c.2134C>A
ENST00000455727.6:c.1376C>A ENSP00000397829.2:p.Ala459Asp
ENST00000535915.5:c.1757C>A ENSP00000440520.1:p.Ala586Asp
ENST00000545707.5:c.1499C>A ENSP00000437639.1:p.Ala500Asp
ENST00000557933.5:c.1880C>A ENSP00000453557.1:p.Ala627Asp
ENST00000558013.5:c.1880C>A ENSP00000453346.1:p.Ala627Asp
ENST00000558518.5:c.1880C>A ENSP00000454071.1:p.Ala627Asp
ENST00000559340.1:c.461C>A
NM_000527.4:c.1880C>A , LRG_274t1:c.1880C>A NP_000518.1:p.Ala627Asp
NM_001195798.1:c.1880C>A NP_001182727.1:p.Ala627Asp
NM_001195799.1:c.1757C>A NP_001182728.1:p.Ala586Asp
NM_001195800.1:c.1376C>A NP_001182729.1:p.Ala459Asp
NM_001195803.1:c.1499C>A NP_001182732.1:p.Ala500Asp
XM_011528010.1:c.1880C>A XP_011526312.1:p.Ala627Asp
XM_011528011.1:c.1499C>A XP_011526313.1:p.Ala500Asp
XR_244074.2:n.1890C>A
XM_011528010.2:c.1880C>A XP_011526312.1:p.Ala627Asp
XR_001753685.2:n.1997C>A
XR_001753686.2:n.1857C>A
NM_000527.5:c.1880C>A MANE Select NP_000518.1:p.Ala627Asp
NM_001195798.2:c.1880C>A NP_001182727.1:p.Ala627Asp
NM_001195799.2:c.1757C>A NP_001182728.1:p.Ala586Asp
NM_001195800.2:c.1376C>A NP_001182729.1:p.Ala459Asp
NM_001195803.2:c.1499C>A NP_001182732.1:p.Ala500Asp