Canonical Allele Identifier: CA10585598
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 252015
ClinVar RCV Id: RCV000238337
dbSNP Id: rs879255010

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116903T>C , CM000681.2:g.11116903T>C GRCh38
NC_000019.9:g.11227579T>C , CM000681.1:g.11227579T>C GRCh37
NC_000019.8:g.11088579T>C NCBI36
NG_009060.1:g.32523T>C , LRG_274:g.32523T>C

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.1750T>C , LRG_274t1:c.1750T>C NP_000518.1:p.Ser584Pro
NM_001195798.1:c.1750T>C VV NP_001182727.1:p.Ser584Pro
NM_001195799.1:c.1627T>C VV NP_001182728.1:p.Ser543Pro
NM_001195800.1:c.1246T>C VV NP_001182729.1:p.Ser416Pro
NM_001195803.1:c.1369T>C VV NP_001182732.1:p.Ser457Pro
XM_011528010.1:c.1750T>C XP_011526312.1:p.Ser584Pro
XM_011528011.1:c.1369T>C XP_011526313.1:p.Ser457Pro
XR_244074.2:n.1855+691T>C
XM_011528010.2:c.1750T>C
XR_001753685.2:n.1867T>C
XR_001753686.2:n.1822+691T>C
ENST00000252444.9:n.2004T>C
ENST00000455727.6:c.1246T>C ENSP00000397829.2:p.Ser416Pro
ENST00000535915.5:c.1627T>C ENSP00000440520.1:p.Ser543Pro
ENST00000545707.5:c.1369T>C ENSP00000437639.1:p.Ser457Pro
ENST00000557933.5:c.1750T>C ENSP00000453557.1:p.Ser584Pro
ENST00000558013.5:c.1750T>C ENSP00000453346.1:p.Ser584Pro
ENST00000558518.5:c.1750T>C ENSP00000454071.1:p.Ser584Pro
ENST00000559340.1:n.426+691T>C