Canonical Allele Identifier: CA023406
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183106
ClinVar RCV Id: RCV000161977 RCV000211596 RCV000587327 RCV000844735 RCV002381528
dbSNP Id: rs730882096
ExAC: 19:11221414 G / A
gnomAD v2: 19-11221414-G-A
gnomAD v3: 19-11110738-G-A
gnomAD v4: 19-11110738-G-A
MyVariant Identifiers: chr19:g.11221414G>A (hg19) chr19:g.11110738G>A (hg38)
ERepo: CA023406/MONDO:0007750/013
PubMed: PMID:1301956 PMID:8882879 PMID:11040093 PMID:11810272 PMID:11851376 PMID:11933210 PMID:15100232 PMID:15241806 PMID:17765246 PMID:18757057 PMID:19446849 PMID:20506408 PMID:23375686 PMID:25647241 PMID:27765764
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110738G>A , CM000681.2:g.11110738G>A GRCh38
NC_000019.9:g.11221414G>A , CM000681.1:g.11221414G>A GRCh37
NC_000019.8:g.11082414G>A NCBI36
NG_009060.1:g.26358G>A , LRG_274:g.26358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1285G>A ENSP00000252444.6:p.Gly429Ser
ENST00000559340.2:c.1027G>A ENSP00000453696.2:p.Gly343Ser
ENST00000560467.2:c.941-776G>A ENSP00000453513.2:n.941-776G>A
ENST00000558518.6:c.1027G>A MANE Select ENSP00000454071.1:p.Gly343Ser
ENST00000252444.9:c.1281G>A
ENST00000455727.6:c.523G>A ENSP00000397829.2:p.Gly175Ser
ENST00000535915.5:c.904G>A ENSP00000440520.1:p.Gly302Ser
ENST00000545707.5:c.646G>A ENSP00000437639.1:p.Gly216Ser
ENST00000557933.5:c.1027G>A ENSP00000453557.1:p.Gly343Ser
ENST00000558013.5:c.1027G>A ENSP00000453346.1:p.Gly343Ser
ENST00000558518.5:c.1027G>A ENSP00000454071.1:p.Gly343Ser
ENST00000560173.1:n.26G>A
ENST00000560467.1:c.541-776G>A
NM_000527.4:c.1027G>A , LRG_274t1:c.1027G>A NP_000518.1:p.Gly343Ser
NM_001195798.1:c.1027G>A NP_001182727.1:p.Gly343Ser
NM_001195799.1:c.904G>A NP_001182728.1:p.Gly302Ser
NM_001195800.1:c.523G>A NP_001182729.1:p.Gly175Ser
NM_001195803.1:c.646G>A NP_001182732.1:p.Gly216Ser
XM_011528010.1:c.1027G>A XP_011526312.1:p.Gly343Ser
XM_011528011.1:c.646G>A XP_011526313.1:p.Gly216Ser
XR_244074.2:n.1177G>A
XM_011528010.2:c.1027G>A XP_011526312.1:p.Gly343Ser
XR_001753685.2:n.1144G>A
XR_001753686.2:n.1144G>A
NM_000527.5:c.1027G>A MANE Select NP_000518.1:p.Gly343Ser
NM_001195798.2:c.1027G>A NP_001182727.1:p.Gly343Ser
NM_001195799.2:c.904G>A NP_001182728.1:p.Gly302Ser
NM_001195800.2:c.523G>A NP_001182729.1:p.Gly175Ser
NM_001195803.2:c.646G>A NP_001182732.1:p.Gly216Ser
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