Canonical Allele Identifier: CA10585110
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251430
ClinVar RCV Id: RCV000238159
dbSNP Id: rs879254663
MyVariant Identifiers: chr19:g.11217289G>T (hg19) chr19:g.11106613G>T (hg38)
PubMed: PMID:1301956
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106613G>T , CM000681.2:g.11106613G>T GRCh38
NC_000019.9:g.11217289G>T , CM000681.1:g.11217289G>T GRCh37
NC_000019.8:g.11078289G>T NCBI36
NG_009060.1:g.22233G>T , LRG_274:g.22233G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1001G>T ENSP00000252444.6:p.Cys334Phe
ENST00000559340.2:c.743G>T ENSP00000453696.2:p.Cys248Phe
ENST00000560467.2:c.743G>T ENSP00000453513.2:p.Cys248Phe
ENST00000558518.6:c.743G>T MANE Select ENSP00000454071.1:p.Cys248Phe
ENST00000252444.9:c.997G>T
ENST00000455727.6:c.314-779G>T ENSP00000397829.2:n.314-779G>T
ENST00000535915.5:c.620G>T ENSP00000440520.1:p.Cys207Phe
ENST00000545707.5:c.362G>T ENSP00000437639.1:p.Cys121Phe
ENST00000557933.5:c.743G>T ENSP00000453557.1:p.Cys248Phe
ENST00000558013.5:c.743G>T ENSP00000453346.1:p.Cys248Phe
ENST00000558518.5:c.743G>T ENSP00000454071.1:p.Cys248Phe
ENST00000558528.1:n.258G>T
ENST00000560467.1:c.343G>T
NM_000527.4:c.743G>T , LRG_274t1:c.743G>T NP_000518.1:p.Cys248Phe
NM_001195798.1:c.743G>T NP_001182727.1:p.Cys248Phe
NM_001195799.1:c.620G>T NP_001182728.1:p.Cys207Phe
NM_001195800.1:c.314-779G>T NP_001182729.1:n.314-779G>T
NM_001195803.1:c.362G>T NP_001182732.1:p.Cys121Phe
XM_011528010.1:c.743G>T XP_011526312.1:p.Cys248Phe
XM_011528011.1:c.362G>T XP_011526313.1:p.Cys121Phe
XR_244074.2:n.893G>T
XM_011528010.2:c.743G>T XP_011526312.1:p.Cys248Phe
XR_001753685.2:n.860G>T
XR_001753686.2:n.860G>T
NM_000527.5:c.743G>T MANE Select NP_000518.1:p.Cys248Phe
NM_001195798.2:c.743G>T NP_001182727.1:p.Cys248Phe
NM_001195799.2:c.620G>T NP_001182728.1:p.Cys207Phe
NM_001195800.2:c.314-779G>T NP_001182729.1:n.314-779G>T
NM_001195803.2:c.362G>T NP_001182732.1:p.Cys121Phe
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