Canonical Allele Identifier: CA10585456
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251846
ClinVar RCV Id: RCV000237957 RCV003581626
dbSNP Id: rs879254904
MyVariant Identifiers: chr19:g.11224297A>G (hg19) chr19:g.11113621A>G (hg38)
ERepo: CA10585456/MONDO:0007750/013
PubMed: PMID:20145306
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113621A>G , CM000681.2:g.11113621A>G GRCh38
NC_000019.9:g.11224297A>G , CM000681.1:g.11224297A>G GRCh37
NC_000019.8:g.11085297A>G NCBI36
NG_009060.1:g.29241A>G , LRG_274:g.29241A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1703A>G ENSP00000252444.6:p.Asp568Gly
ENST00000559340.2:c.1445A>G ENSP00000453696.2:p.Asp482Gly
ENST00000560467.2:c.1325A>G ENSP00000453513.2:p.Asp442Gly
ENST00000558518.6:c.1445A>G MANE Select ENSP00000454071.1:p.Asp482Gly
ENST00000252444.9:c.1699A>G
ENST00000455727.6:c.941A>G ENSP00000397829.2:p.Asp314Gly
ENST00000535915.5:c.1322A>G ENSP00000440520.1:p.Asp441Gly
ENST00000545707.5:c.1064A>G ENSP00000437639.1:p.Asp355Gly
ENST00000557933.5:c.1445A>G ENSP00000453557.1:p.Asp482Gly
ENST00000558013.5:c.1445A>G ENSP00000453346.1:p.Asp482Gly
ENST00000558518.5:c.1445A>G ENSP00000454071.1:p.Asp482Gly
ENST00000559340.1:c.166A>G
ENST00000560467.1:c.925A>G
NM_000527.4:c.1445A>G , LRG_274t1:c.1445A>G NP_000518.1:p.Asp482Gly
NM_001195798.1:c.1445A>G NP_001182727.1:p.Asp482Gly
NM_001195799.1:c.1322A>G NP_001182728.1:p.Asp441Gly
NM_001195800.1:c.941A>G NP_001182729.1:p.Asp314Gly
NM_001195803.1:c.1064A>G NP_001182732.1:p.Asp355Gly
XM_011528010.1:c.1445A>G XP_011526312.1:p.Asp482Gly
XM_011528011.1:c.1064A>G XP_011526313.1:p.Asp355Gly
XR_244074.2:n.1595A>G
XM_011528010.2:c.1445A>G XP_011526312.1:p.Asp482Gly
XR_001753685.2:n.1562A>G
XR_001753686.2:n.1562A>G
NM_000527.5:c.1445A>G MANE Select NP_000518.1:p.Asp482Gly
NM_001195798.2:c.1445A>G NP_001182727.1:p.Asp482Gly
NM_001195799.2:c.1322A>G NP_001182728.1:p.Asp441Gly
NM_001195800.2:c.941A>G NP_001182729.1:p.Asp314Gly
NM_001195803.2:c.1064A>G NP_001182732.1:p.Asp355Gly
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