Canonical Allele Identifier: CA10585139
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251460
ClinVar RCV Id: RCV000237979
dbSNP Id: rs879254680
MyVariant Identifiers: chr19:g.11217346A>C (hg19) chr19:g.11106670A>C (hg38)
PubMed: PMID:11668640
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106670A>C , CM000681.2:g.11106670A>C GRCh38
NC_000019.9:g.11217346A>C , CM000681.1:g.11217346A>C GRCh37
NC_000019.8:g.11078346A>C NCBI36
NG_009060.1:g.22290A>C , LRG_274:g.22290A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1058A>C ENSP00000252444.6:p.Glu353Ala
ENST00000559340.2:c.800A>C ENSP00000453696.2:p.Glu267Ala
ENST00000560467.2:c.800A>C ENSP00000453513.2:p.Glu267Ala
ENST00000558518.6:c.800A>C MANE Select ENSP00000454071.1:p.Glu267Ala
ENST00000252444.9:c.1054A>C
ENST00000455727.6:c.314-722A>C ENSP00000397829.2:n.314-722A>C
ENST00000535915.5:c.677A>C ENSP00000440520.1:p.Glu226Ala
ENST00000545707.5:c.419A>C ENSP00000437639.1:p.Glu140Ala
ENST00000557933.5:c.800A>C ENSP00000453557.1:p.Glu267Ala
ENST00000558013.5:c.800A>C ENSP00000453346.1:p.Glu267Ala
ENST00000558518.5:c.800A>C ENSP00000454071.1:p.Glu267Ala
ENST00000558528.1:n.315A>C
ENST00000560467.1:c.400A>C
NM_000527.4:c.800A>C , LRG_274t1:c.800A>C NP_000518.1:p.Glu267Ala
NM_001195798.1:c.800A>C NP_001182727.1:p.Glu267Ala
NM_001195799.1:c.677A>C NP_001182728.1:p.Glu226Ala
NM_001195800.1:c.314-722A>C NP_001182729.1:n.314-722A>C
NM_001195803.1:c.419A>C NP_001182732.1:p.Glu140Ala
XM_011528010.1:c.800A>C XP_011526312.1:p.Glu267Ala
XM_011528011.1:c.419A>C XP_011526313.1:p.Glu140Ala
XR_244074.2:n.950A>C
XM_011528010.2:c.800A>C XP_011526312.1:p.Glu267Ala
XR_001753685.2:n.917A>C
XR_001753686.2:n.917A>C
NM_000527.5:c.800A>C MANE Select NP_000518.1:p.Glu267Ala
NM_001195798.2:c.800A>C NP_001182727.1:p.Glu267Ala
NM_001195799.2:c.677A>C NP_001182728.1:p.Glu226Ala
NM_001195800.2:c.314-722A>C NP_001182729.1:n.314-722A>C
NM_001195803.2:c.419A>C NP_001182732.1:p.Glu140Ala
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