Canonical Allele Identifier: CA10585687
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252120
ClinVar RCV Id: RCV000237722 RCV002461042 RCV003235162
dbSNP Id: rs879255079
MyVariant Identifiers: chr19:g.11230864T>C (hg19) chr19:g.11120188T>C (hg38)
ERepo: CA10585687/MONDO:0007750/013
PubMed: PMID:23021490
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120188T>C , CM000681.2:g.11120188T>C GRCh38
NC_000019.9:g.11230864T>C , CM000681.1:g.11230864T>C GRCh37
NC_000019.8:g.11091864T>C NCBI36
NG_009060.1:g.35808T>C , LRG_274:g.35808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2200T>C ENSP00000252444.6:p.Ser734Pro
ENST00000559340.2:c.*11T>C ENSP00000453696.2:n.*11T>C
ENST00000560467.2:c.1822T>C ENSP00000453513.2:p.Ser608Pro
ENST00000558518.6:c.1942T>C MANE Select ENSP00000454071.1:p.Ser648Pro
ENST00000252444.9:c.2196T>C
ENST00000455727.6:c.1438T>C ENSP00000397829.2:p.Ser480Pro
ENST00000535915.5:c.1819T>C ENSP00000440520.1:p.Ser607Pro
ENST00000545707.5:c.1561T>C ENSP00000437639.1:p.Ser521Pro
ENST00000557933.5:c.1942T>C ENSP00000453557.1:p.Ser648Pro
ENST00000558013.5:c.1942T>C ENSP00000453346.1:p.Ser648Pro
ENST00000558518.5:c.1942T>C ENSP00000454071.1:p.Ser648Pro
ENST00000559340.1:c.523T>C
NM_000527.4:c.1942T>C , LRG_274t1:c.1942T>C NP_000518.1:p.Ser648Pro
NM_001195798.1:c.1942T>C NP_001182727.1:p.Ser648Pro
NM_001195799.1:c.1819T>C NP_001182728.1:p.Ser607Pro
NM_001195800.1:c.1438T>C NP_001182729.1:p.Ser480Pro
NM_001195803.1:c.1561T>C NP_001182732.1:p.Ser521Pro
XM_011528010.1:c.1942T>C XP_011526312.1:p.Ser648Pro
XM_011528011.1:c.1561T>C XP_011526313.1:p.Ser521Pro
XR_244074.2:n.1952T>C
XM_011528010.2:c.1942T>C XP_011526312.1:p.Ser648Pro
XR_001753685.2:n.2059T>C
XR_001753686.2:n.1919T>C
NM_000527.5:c.1942T>C MANE Select NP_000518.1:p.Ser648Pro
NM_001195798.2:c.1942T>C NP_001182727.1:p.Ser648Pro
NM_001195799.2:c.1819T>C NP_001182728.1:p.Ser607Pro
NM_001195800.2:c.1438T>C NP_001182729.1:p.Ser480Pro
NM_001195803.2:c.1561T>C NP_001182732.1:p.Ser521Pro
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