Canonical Allele Identifier: CA404098714
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073105
ClinVar RCV Id: RCV004015119

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129556G>C , CM000681.2:g.11129556G>C GRCh38
NC_000019.9:g.11240232G>C , CM000681.1:g.11240232G>C GRCh37
NC_000019.8:g.11101232G>C NCBI36
NG_009060.1:g.45176G>C , LRG_274:g.45176G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2691G>C ENSP00000252444.6:p.Lys897Asn
ENST00000559340.2:c.*502G>C ENSP00000453696.2:n.*502G>C
ENST00000560467.2:c.2313G>C ENSP00000453513.2:p.Lys771Asn
ENST00000558518.6:c.2433G>C MANE Select ENSP00000454071.1:p.Lys811Asn
ENST00000252444.9:c.2687G>C
ENST00000455727.6:c.1929G>C ENSP00000397829.2:p.Lys643Asn
ENST00000535915.5:c.2310G>C ENSP00000440520.1:p.Lys770Asn
ENST00000545707.5:c.1899G>C ENSP00000437639.1:p.Lys633Asn
ENST00000557933.5:c.2495G>C ENSP00000453557.1:p.Arg832Thr
ENST00000558013.5:c.2433G>C ENSP00000453346.1:p.Lys811Asn
ENST00000558518.5:c.2433G>C ENSP00000454071.1:p.Lys811Asn
ENST00000560628.1:n.108+1902G>C
NM_000527.4:c.2433G>C , LRG_274t1:c.2433G>C NP_000518.1:p.Lys811Asn
NM_001195798.1:c.2433G>C NP_001182727.1:p.Lys811Asn
NM_001195799.1:c.2310G>C NP_001182728.1:p.Lys770Asn
NM_001195800.1:c.1929G>C NP_001182729.1:p.Lys643Asn
NM_001195803.1:c.1899G>C NP_001182732.1:p.Lys633Asn
XM_011528010.1:c.2355G>C XP_011526312.1:p.Lys785Asn
XM_011528011.1:c.2052G>C XP_011526313.1:p.Lys684Asn
XR_244074.2:n.2443G>C
XM_011528010.2:c.2355G>C XP_011526312.1:p.Lys785Asn
XR_001753685.2:n.2767G>C
XR_001753686.2:n.2410G>C
NM_000527.5:c.2433G>C MANE Select NP_000518.1:p.Lys811Asn
NM_001195798.2:c.2433G>C NP_001182727.1:p.Lys811Asn
NM_001195799.2:c.2310G>C NP_001182728.1:p.Lys770Asn
NM_001195800.2:c.1929G>C NP_001182729.1:p.Lys643Asn
NM_001195803.2:c.1899G>C NP_001182732.1:p.Lys633Asn