Canonical Allele Identifier: CA023749
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3691
ClinVar RCV Id: RCV000003878 RCV000623885 RCV000775232 RCV000735406 RCV000844738 RCV002362556
dbSNP Id: rs121908029
gnomAD v2: 19-11216264-G-A
gnomAD v4: 19-11105588-G-A
COSMIC: COSM4843906
MyVariant Identifiers: chr19:g.11216264G>A (hg19) chr19:g.11105588G>A (hg38)
ERepo: CA023749/MONDO:0007750/013
PubMed: PMID:2088165 PMID:2318961 PMID:3263645 PMID:9157944 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:17765246 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:22390909 PMID:22698793 PMID:23375686 PMID:27765764 PMID:29374275
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105588G>A , CM000681.2:g.11105588G>A GRCh38
NC_000019.9:g.11216264G>A , CM000681.1:g.11216264G>A GRCh37
NC_000019.8:g.11077264G>A NCBI36
NG_009060.1:g.21208G>A , LRG_274:g.21208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.940G>A ENSP00000252444.6:p.Glu314Lys
ENST00000559340.2:c.682G>A ENSP00000453696.2:p.Glu228Lys
ENST00000560467.2:c.682G>A ENSP00000453513.2:p.Glu228Lys
ENST00000558518.6:c.682G>A MANE Select ENSP00000454071.1:p.Glu228Lys
ENST00000252444.9:c.936G>A
ENST00000455727.6:c.314-1804G>A ENSP00000397829.2:n.314-1804G>A
ENST00000535915.5:c.559G>A ENSP00000440520.1:p.Glu187Lys
ENST00000545707.5:c.314-977G>A ENSP00000437639.1:n.314-977G>A
ENST00000557933.5:c.682G>A ENSP00000453557.1:p.Glu228Lys
ENST00000558013.5:c.682G>A ENSP00000453346.1:p.Glu228Lys
ENST00000558518.5:c.682G>A ENSP00000454071.1:p.Glu228Lys
ENST00000560467.1:c.282G>A
NM_000527.4:c.682G>A , LRG_274t1:c.682G>A NP_000518.1:p.Glu228Lys
NM_001195798.1:c.682G>A NP_001182727.1:p.Glu228Lys
NM_001195799.1:c.559G>A NP_001182728.1:p.Glu187Lys
NM_001195800.1:c.314-1804G>A NP_001182729.1:n.314-1804G>A
NM_001195803.1:c.314-977G>A NP_001182732.1:n.314-977G>A
XM_011528010.1:c.682G>A XP_011526312.1:p.Glu228Lys
XM_011528011.1:c.314-977G>A XP_011526313.1:n.314-977G>A
XR_244074.2:n.832G>A
XM_011528010.2:c.682G>A XP_011526312.1:p.Glu228Lys
XR_001753685.2:n.799G>A
XR_001753686.2:n.799G>A
NM_000527.5:c.682G>A MANE Select NP_000518.1:p.Glu228Lys
NM_001195798.2:c.682G>A NP_001182727.1:p.Glu228Lys
NM_001195799.2:c.559G>A NP_001182728.1:p.Glu187Lys
NM_001195800.2:c.314-1804G>A NP_001182729.1:n.314-1804G>A
NM_001195803.2:c.314-977G>A NP_001182732.1:n.314-977G>A
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