Canonical Allele Identifier: CA16602286
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375769
ClinVar RCV Id: RCV000417242
dbSNP Id: rs1057519647

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089381A>G , CM000681.2:g.11089381A>G GRCh38
NC_000019.9:g.11200057A>G , CM000681.1:g.11200057A>G GRCh37
NC_000019.8:g.11061057A>G NCBI36
NG_009060.1:g.5001A>G , LRG_274:g.5001A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-168A>G (LDLR) ENSP00000454071.1:n.-168A>G
NM_000527.4:c.-168A>G , LRG_274t1:c.-168A>G (LDLR) NP_000518.1:n.-168A>G
NM_001195798.1:c.-168A>G (LDLR) NP_001182727.1:n.-168A>G
NM_001195799.1:c.-168A>G (LDLR) NP_001182728.1:n.-168A>G
NM_001195800.1:c.-168A>G (LDLR) NP_001182729.1:n.-168A>G
NM_001195803.1:c.-168A>G (LDLR) NP_001182732.1:n.-168A>G
XM_011528011.1:c.-168A>G (LDLR) XP_011526313.1:n.-168A>G
NR_163945.1:n.279T>C (LDLR-AS1)