Canonical Allele Identifier: CA023717
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 183089
dbSNP Id: rs557344672

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105448C>G , CM000681.2:g.11105448C>G GRCh38
NC_000019.8:g.11077124C>G NCBI36
NC_000019.9:g.11216124C>G , CM000681.1:g.11216124C>G GRCh37
NG_009060.1:g.21068C>G , LRG_274:g.21068C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.9:n.796C>G
ENST00000455727.6:c.314-1944C>G ENSP00000397829.2:p.=
ENST00000535915.5:c.419C>G ENSP00000440520.1:p.Pro140Arg
ENST00000545707.5:c.314-1117C>G ENSP00000437639.1:p.=
ENST00000557933.5:c.542C>G ENSP00000453557.1:p.Pro181Arg
ENST00000558013.5:c.542C>G ENSP00000453346.1:p.Pro181Arg
ENST00000558518.5:c.542C>G ENSP00000454071.1:p.Pro181Arg
ENST00000560467.1:n.142C>G
NM_000527.4:c.542C>G , LRG_274t1:c.542C>G NP_000518.1:p.Pro181Arg
NM_001195798.1:c.542C>G NP_001182727.1:p.Pro181Arg
NM_001195799.1:c.419C>G NP_001182728.1:p.Pro140Arg
NM_001195800.1:c.314-1944C>G NP_001182729.1:p.=
NM_001195803.1:c.314-1117C>G NP_001182732.1:p.=
XM_011528010.1:c.542C>G XP_011526312.1:p.Pro181Arg
XM_011528011.1:c.314-1117C>G XP_011526313.1:p.=
XR_244074.2:n.692C>G