Canonical Allele Identifier: CA10585252
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251600
ClinVar RCV Id: RCV000237709 RCV000775249 RCV002365245 RCV004017548
dbSNP Id: rs755757866
gnomAD v4: 19-11110730-G-A
MyVariant Identifiers: chr19:g.11221406G>A (hg19) chr19:g.11110730G>A (hg38)
PubMed: PMID:15241806
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110730G>A , CM000681.2:g.11110730G>A GRCh38
NC_000019.9:g.11221406G>A , CM000681.1:g.11221406G>A GRCh37
NC_000019.8:g.11082406G>A NCBI36
NG_009060.1:g.26350G>A , LRG_274:g.26350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1277G>A ENSP00000252444.6:p.Cys426Tyr
ENST00000559340.2:c.1019G>A ENSP00000453696.2:p.Cys340Tyr
ENST00000560467.2:c.941-784G>A ENSP00000453513.2:n.941-784G>A
ENST00000558518.6:c.1019G>A MANE Select ENSP00000454071.1:p.Cys340Tyr
ENST00000252444.9:c.1273G>A
ENST00000455727.6:c.515G>A ENSP00000397829.2:p.Cys172Tyr
ENST00000535915.5:c.896G>A ENSP00000440520.1:p.Cys299Tyr
ENST00000545707.5:c.638G>A ENSP00000437639.1:p.Cys213Tyr
ENST00000557933.5:c.1019G>A ENSP00000453557.1:p.Cys340Tyr
ENST00000558013.5:c.1019G>A ENSP00000453346.1:p.Cys340Tyr
ENST00000558518.5:c.1019G>A ENSP00000454071.1:p.Cys340Tyr
ENST00000560173.1:n.18G>A
ENST00000560467.1:c.541-784G>A
NM_000527.4:c.1019G>A , LRG_274t1:c.1019G>A NP_000518.1:p.Cys340Tyr
NM_001195798.1:c.1019G>A NP_001182727.1:p.Cys340Tyr
NM_001195799.1:c.896G>A NP_001182728.1:p.Cys299Tyr
NM_001195800.1:c.515G>A NP_001182729.1:p.Cys172Tyr
NM_001195803.1:c.638G>A NP_001182732.1:p.Cys213Tyr
XM_011528010.1:c.1019G>A XP_011526312.1:p.Cys340Tyr
XM_011528011.1:c.638G>A XP_011526313.1:p.Cys213Tyr
XR_244074.2:n.1169G>A
XM_011528010.2:c.1019G>A XP_011526312.1:p.Cys340Tyr
XR_001753685.2:n.1136G>A
XR_001753686.2:n.1136G>A
NM_000527.5:c.1019G>A MANE Select NP_000518.1:p.Cys340Tyr
NM_001195798.2:c.1019G>A NP_001182727.1:p.Cys340Tyr
NM_001195799.2:c.896G>A NP_001182728.1:p.Cys299Tyr
NM_001195800.2:c.515G>A NP_001182729.1:p.Cys172Tyr
NM_001195803.2:c.638G>A NP_001182732.1:p.Cys213Tyr
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