Canonical Allele Identifier: CA1139666285
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919399
ClinVar RCV Id: RCV001177547
dbSNP Id: rs1568582299

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089427C>T , CM000681.2:g.11089427C>T GRCh38
NC_000019.9:g.11200103C>T , CM000681.1:g.11200103C>T GRCh37
NC_000019.8:g.11061103C>T NCBI36
NG_009060.1:g.5047C>T , LRG_274:g.5047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.-122C>T (LDLR) ENSP00000453696.2:n.-122C>T
ENST00000558518.5:c.-122C>T (LDLR) ENSP00000454071.1:n.-122C>T
NM_000527.4:c.-122C>T , LRG_274t1:c.-122C>T (LDLR) NP_000518.1:n.-122C>T
NM_001195798.1:c.-122C>T (LDLR) NP_001182727.1:n.-122C>T
NM_001195799.1:c.-122C>T (LDLR) NP_001182728.1:n.-122C>T
NM_001195800.1:c.-122C>T (LDLR) NP_001182729.1:n.-122C>T
NM_001195803.1:c.-122C>T (LDLR) NP_001182732.1:n.-122C>T
XM_011528010.1:c.-122C>T (LDLR) XP_011526312.1:n.-122C>T
XM_011528011.1:c.-122C>T (LDLR) XP_011526313.1:n.-122C>T
XR_244074.2:n.29C>T (LDLR)
NR_163945.1:n.233G>A (LDLR-AS1)