Canonical Allele Identifier: CA404096676
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2015556
ClinVar RCV Id: RCV002846414

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128022G>C , CM000681.2:g.11128022G>C GRCh38
NC_000019.9:g.11238698G>C , CM000681.1:g.11238698G>C GRCh37
NC_000019.8:g.11099698G>C NCBI36
NG_009060.1:g.43642G>C , LRG_274:g.43642G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2584G>C ENSP00000252444.6:p.Ala862Pro
ENST00000559340.2:c.*395G>C ENSP00000453696.2:n.*395G>C
ENST00000560467.2:c.2206G>C ENSP00000453513.2:p.Ala736Pro
ENST00000558518.6:c.2326G>C MANE Select ENSP00000454071.1:p.Ala776Pro
ENST00000252444.9:c.2580G>C
ENST00000455727.6:c.1822G>C ENSP00000397829.2:p.Ala608Pro
ENST00000535915.5:c.2203G>C ENSP00000440520.1:p.Ala735Pro
ENST00000545707.5:c.1792G>C ENSP00000437639.1:p.Ala598Pro
ENST00000557933.5:c.2326G>C ENSP00000453557.1:p.Ala776Pro
ENST00000558013.5:c.2326G>C ENSP00000453346.1:p.Ala776Pro
ENST00000558518.5:c.2326G>C ENSP00000454071.1:p.Ala776Pro
ENST00000560628.1:n.108+368G>C
NM_000527.4:c.2326G>C , LRG_274t1:c.2326G>C NP_000518.1:p.Ala776Pro
NM_001195798.1:c.2326G>C NP_001182727.1:p.Ala776Pro
NM_001195799.1:c.2203G>C NP_001182728.1:p.Ala735Pro
NM_001195800.1:c.1822G>C NP_001182729.1:p.Ala608Pro
NM_001195803.1:c.1792G>C NP_001182732.1:p.Ala598Pro
XM_011528010.1:c.2312-1491G>C XP_011526312.1:n.2312-1491G>C
XM_011528011.1:c.1945G>C XP_011526313.1:p.Ala649Pro
XR_244074.2:n.2336G>C
XM_011528010.2:c.2312-1491G>C XP_011526312.1:n.2312-1491G>C
XR_001753685.2:n.2660G>C
XR_001753686.2:n.2303G>C
NM_000527.5:c.2326G>C MANE Select NP_000518.1:p.Ala776Pro
NM_001195798.2:c.2326G>C NP_001182727.1:p.Ala776Pro
NM_001195799.2:c.2203G>C NP_001182728.1:p.Ala735Pro
NM_001195800.2:c.1822G>C NP_001182729.1:p.Ala608Pro
NM_001195803.2:c.1792G>C NP_001182732.1:p.Ala598Pro