Canonical Allele Identifier: CA913188947
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919616
ClinVar RCV Id: RCV001177895
dbSNP Id: rs2077055227
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089416C>T , CM000681.2:g.11089416C>T GRCh38
NC_000019.9:g.11200092C>T , CM000681.1:g.11200092C>T GRCh37
NC_000019.8:g.11061092C>T NCBI36
NG_009060.1:g.5036C>T , LRG_274:g.5036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-133C>T (LDLR) ENSP00000454071.1:n.-133C>T
NM_000527.4:c.-133C>T , LRG_274t1:c.-133C>T (LDLR) NP_000518.1:n.-133C>T
NM_001195798.1:c.-133C>T (LDLR) NP_001182727.1:n.-133C>T
NM_001195799.1:c.-133C>T (LDLR) NP_001182728.1:n.-133C>T
NM_001195800.1:c.-133C>T (LDLR) NP_001182729.1:n.-133C>T
NM_001195803.1:c.-133C>T (LDLR) NP_001182732.1:n.-133C>T
XM_011528010.1:c.-133C>T (LDLR) XP_011526312.1:n.-133C>T
XM_011528011.1:c.-133C>T (LDLR) XP_011526313.1:n.-133C>T
XR_244074.2:n.18C>T (LDLR)
NR_163945.1:n.244G>A (LDLR-AS1)
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