Canonical Allele Identifier: CA10584706
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 250952
ClinVar RCV Id: RCV003477846
dbSNP Id: rs879254372
gnomAD v4: 19-11089411-T-C
MyVariant Identifiers: chr19:g.11200087T>C (hg19) chr19:g.11089411T>C (hg38)
PubMed: PMID:8589690
ERepo: CA10584706/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089411T>C , CM000681.2:g.11089411T>C GRCh38
NC_000019.9:g.11200087T>C , CM000681.1:g.11200087T>C GRCh37
NC_000019.8:g.11061087T>C NCBI36
NG_009060.1:g.5031T>C , LRG_274:g.5031T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-138T>C (LDLR) ENSP00000454071.1:n.-138T>C
NM_000527.4:c.-138T>C , LRG_274t1:c.-138T>C (LDLR) NP_000518.1:n.-138T>C
NM_001195798.1:c.-138T>C (LDLR) NP_001182727.1:n.-138T>C
NM_001195799.1:c.-138T>C (LDLR) NP_001182728.1:n.-138T>C
NM_001195800.1:c.-138T>C (LDLR) NP_001182729.1:n.-138T>C
NM_001195803.1:c.-138T>C (LDLR) NP_001182732.1:n.-138T>C
XM_011528010.1:c.-138T>C (LDLR) XP_011526312.1:n.-138T>C
XM_011528011.1:c.-138T>C (LDLR) XP_011526313.1:n.-138T>C
XR_244074.2:n.13T>C (LDLR)
NR_163945.1:n.249A>G (LDLR-AS1)
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