Canonical Allele Identifier: CA16609822
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403648
ClinVar RCV Id: RCV000455120
dbSNP Id: rs1060499930

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129530T>C , CM000681.2:g.11129530T>C GRCh38
NC_000019.9:g.11240206T>C , CM000681.1:g.11240206T>C GRCh37
NC_000019.8:g.11101206T>C NCBI36
NG_009060.1:g.45150T>C , LRG_274:g.45150T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2665T>C ENSP00000252444.6:p.Cys889Arg
ENST00000559340.2:c.*476T>C ENSP00000453696.2:n.*476T>C
ENST00000560467.2:c.2287T>C ENSP00000453513.2:p.Cys763Arg
ENST00000558518.6:c.2407T>C MANE Select ENSP00000454071.1:p.Cys803Arg
ENST00000252444.9:c.2661T>C
ENST00000455727.6:c.1903T>C ENSP00000397829.2:p.Cys635Arg
ENST00000535915.5:c.2284T>C ENSP00000440520.1:p.Cys762Arg
ENST00000545707.5:c.1873T>C ENSP00000437639.1:p.Cys625Arg
ENST00000557933.5:c.2469T>C ENSP00000453557.1:p.Phe823=
ENST00000558013.5:c.2407T>C ENSP00000453346.1:p.Cys803Arg
ENST00000558518.5:c.2407T>C ENSP00000454071.1:p.Cys803Arg
ENST00000560628.1:n.108+1876T>C
NM_000527.4:c.2407T>C , LRG_274t1:c.2407T>C NP_000518.1:p.Cys803Arg
NM_001195798.1:c.2407T>C NP_001182727.1:p.Cys803Arg
NM_001195799.1:c.2284T>C NP_001182728.1:p.Cys762Arg
NM_001195800.1:c.1903T>C NP_001182729.1:p.Cys635Arg
NM_001195803.1:c.1873T>C NP_001182732.1:p.Cys625Arg
XM_011528010.1:c.2329T>C XP_011526312.1:p.Cys777Arg
XM_011528011.1:c.2026T>C XP_011526313.1:p.Cys676Arg
XR_244074.2:n.2417T>C
XM_011528010.2:c.2329T>C XP_011526312.1:p.Cys777Arg
XR_001753685.2:n.2741T>C
XR_001753686.2:n.2384T>C
NM_000527.5:c.2407T>C MANE Select NP_000518.1:p.Cys803Arg
NM_001195798.2:c.2407T>C NP_001182727.1:p.Cys803Arg
NM_001195799.2:c.2284T>C NP_001182728.1:p.Cys762Arg
NM_001195800.2:c.1903T>C NP_001182729.1:p.Cys635Arg
NM_001195803.2:c.1873T>C NP_001182732.1:p.Cys625Arg