Canonical Allele Identifier: CA10584700
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 250946
ClinVar RCV Id: RCV000238008
dbSNP Id: rs879254368
gnomAD v4: 19-11089400-C-A
COSMIC: COSN8922789
MyVariant Identifiers: chr19:g.11200076C>A (hg19) chr19:g.11089400C>A (hg38)
ERepo: CA10584700/MONDO:0007750/013
PubMed: PMID:22698793
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089400C>A , CM000681.2:g.11089400C>A GRCh38
NC_000019.9:g.11200076C>A , CM000681.1:g.11200076C>A GRCh37
NC_000019.8:g.11061076C>A NCBI36
NG_009060.1:g.5020C>A , LRG_274:g.5020C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-149C>A (LDLR) ENSP00000454071.1:n.-149C>A
NM_000527.4:c.-149C>A , LRG_274t1:c.-149C>A (LDLR) NP_000518.1:n.-149C>A
NM_001195798.1:c.-149C>A (LDLR) NP_001182727.1:n.-149C>A
NM_001195799.1:c.-149C>A (LDLR) NP_001182728.1:n.-149C>A
NM_001195800.1:c.-149C>A (LDLR) NP_001182729.1:n.-149C>A
NM_001195803.1:c.-149C>A (LDLR) NP_001182732.1:n.-149C>A
XM_011528010.1:c.-149C>A (LDLR) XP_011526312.1:n.-149C>A
XM_011528011.1:c.-149C>A (LDLR) XP_011526313.1:n.-149C>A
XR_244074.2:n.2C>A (LDLR)
NR_163945.1:n.260G>T (LDLR-AS1)
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