Canonical Allele Identifier: CA10585864
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252335
dbSNP Id: rs879255210

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129553G>A , CM000681.2:g.11129553G>A GRCh38
NC_000019.9:g.11240229G>A , CM000681.1:g.11240229G>A GRCh37
NC_000019.8:g.11101229G>A NCBI36
NG_009060.1:g.45173G>A , LRG_274:g.45173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2688G>A ENSP00000252444.6:p.Trp896Ter
ENST00000559340.2:c.*499G>A ENSP00000453696.2:n.*499G>A
ENST00000560467.2:c.2310G>A ENSP00000453513.2:p.Trp770Ter
ENST00000558518.6:c.2430G>A MANE Select ENSP00000454071.1:p.Trp810Ter
ENST00000252444.9:c.2684G>A
ENST00000455727.6:c.1926G>A ENSP00000397829.2:p.Trp642Ter
ENST00000535915.5:c.2307G>A ENSP00000440520.1:p.Trp769Ter
ENST00000545707.5:c.1896G>A ENSP00000437639.1:p.Trp632Ter
ENST00000557933.5:c.2492G>A ENSP00000453557.1:p.Gly831Glu
ENST00000558013.5:c.2430G>A ENSP00000453346.1:p.Trp810Ter
ENST00000558518.5:c.2430G>A ENSP00000454071.1:p.Trp810Ter
ENST00000560628.1:n.108+1899G>A
NM_000527.4:c.2430G>A , LRG_274t1:c.2430G>A NP_000518.1:p.Trp810Ter
NM_001195798.1:c.2430G>A NP_001182727.1:p.Trp810Ter
NM_001195799.1:c.2307G>A NP_001182728.1:p.Trp769Ter
NM_001195800.1:c.1926G>A NP_001182729.1:p.Trp642Ter
NM_001195803.1:c.1896G>A NP_001182732.1:p.Trp632Ter
XM_011528010.1:c.2352G>A XP_011526312.1:p.Trp784Ter
XM_011528011.1:c.2049G>A XP_011526313.1:p.Trp683Ter
XR_244074.2:n.2440G>A
XM_011528010.2:c.2352G>A XP_011526312.1:p.Trp784Ter
XR_001753685.2:n.2764G>A
XR_001753686.2:n.2407G>A
NM_000527.5:c.2430G>A MANE Select NP_000518.1:p.Trp810Ter
NM_001195798.2:c.2430G>A NP_001182727.1:p.Trp810Ter
NM_001195799.2:c.2307G>A NP_001182728.1:p.Trp769Ter
NM_001195800.2:c.1926G>A NP_001182729.1:p.Trp642Ter
NM_001195803.2:c.1896G>A NP_001182732.1:p.Trp632Ter