Canonical Allele Identifier: CA023412
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36451
ClinVar RCV Id: RCV000030123 RCV000245346 RCV000759074 RCV001083488 RCV002399342
dbSNP Id: rs72658861
ExAC: 19:11222182 T / C
gnomAD v2: 19-11222182-T-C
gnomAD v3: 19-11111506-T-C
gnomAD v4: 19-11111506-T-C
MyVariant Identifiers: chr19:g.11222182T>C (hg19) chr19:g.11111506T>C (hg38)
ERepo: CA023412/MONDO:0007750/013
PubMed: PMID:8697568 PMID:9727746 PMID:10735632 PMID:10790219 PMID:15035285 PMID:15241806 PMID:15576851 PMID:15998910 PMID:17335829 PMID:18239150 PMID:19007590 PMID:19208450 PMID:19411563 PMID:20145306 PMID:27765764 PMID:28145427
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111506T>C , CM000681.2:g.11111506T>C GRCh38
NC_000019.9:g.11222182T>C , CM000681.1:g.11222182T>C GRCh37
NC_000019.8:g.11083182T>C NCBI36
NG_009060.1:g.27126T>C , LRG_274:g.27126T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1319-8T>C ENSP00000252444.6:n.1319-8T>C
ENST00000559340.2:c.1061-8T>C ENSP00000453696.2:n.1061-8T>C
ENST00000560467.2:c.941-8T>C ENSP00000453513.2:n.941-8T>C
ENST00000558518.6:c.1061-8T>C MANE Select ENSP00000454071.1:n.1061-8T>C
ENST00000252444.9:c.1315-8T>C
ENST00000455727.6:c.557-8T>C ENSP00000397829.2:n.557-8T>C
ENST00000535915.5:c.938-8T>C ENSP00000440520.1:n.938-8T>C
ENST00000545707.5:c.680-8T>C ENSP00000437639.1:n.680-8T>C
ENST00000557933.5:c.1061-8T>C ENSP00000453557.1:n.1061-8T>C
ENST00000558013.5:c.1061-8T>C ENSP00000453346.1:n.1061-8T>C
ENST00000558518.5:c.1061-8T>C ENSP00000454071.1:n.1061-8T>C
ENST00000560173.1:n.60-8T>C
ENST00000560467.1:c.541-8T>C
NM_000527.4:c.1061-8T>C , LRG_274t1:c.1061-8T>C NP_000518.1:n.1061-8T>C
NM_001195798.1:c.1061-8T>C NP_001182727.1:n.1061-8T>C
NM_001195799.1:c.938-8T>C NP_001182728.1:n.938-8T>C
NM_001195800.1:c.557-8T>C NP_001182729.1:n.557-8T>C
NM_001195803.1:c.680-8T>C NP_001182732.1:n.680-8T>C
XM_011528010.1:c.1061-8T>C XP_011526312.1:n.1061-8T>C
XM_011528011.1:c.680-8T>C XP_011526313.1:n.680-8T>C
XR_244074.2:n.1211-8T>C
XM_011528010.2:c.1061-8T>C XP_011526312.1:n.1061-8T>C
XR_001753685.2:n.1178-8T>C
XR_001753686.2:n.1178-8T>C
NM_000527.5:c.1061-8T>C MANE Select NP_000518.1:n.1061-8T>C
NM_001195798.2:c.1061-8T>C NP_001182727.1:n.1061-8T>C
NM_001195799.2:c.938-8T>C NP_001182728.1:n.938-8T>C
NM_001195800.2:c.557-8T>C NP_001182729.1:n.557-8T>C
NM_001195803.2:c.680-8T>C NP_001182732.1:n.680-8T>C
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