Canonical Allele Identifier: CA10585163
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251490
ClinVar RCV Id: RCV000237673
dbSNP Id: rs368657165
MyVariant Identifiers: chr19:g.11218112G>T (hg19) chr19:g.11107436G>T (hg38)
PubMed: PMID:9974426 PMID:21310417 PMID:22698793
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107436G>T , CM000681.2:g.11107436G>T GRCh38
NC_000019.9:g.11218112G>T , CM000681.1:g.11218112G>T GRCh37
NC_000019.8:g.11079112G>T NCBI36
NG_009060.1:g.23056G>T , LRG_274:g.23056G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1120G>T ENSP00000252444.6:p.Glu374Ter
ENST00000559340.2:c.862G>T ENSP00000453696.2:p.Glu288Ter
ENST00000560467.2:c.862G>T ENSP00000453513.2:p.Glu288Ter
ENST00000558518.6:c.862G>T MANE Select ENSP00000454071.1:p.Glu288Ter
ENST00000252444.9:c.1116G>T
ENST00000455727.6:c.358G>T ENSP00000397829.2:p.Glu120Ter
ENST00000535915.5:c.739G>T ENSP00000440520.1:p.Glu247Ter
ENST00000545707.5:c.481G>T ENSP00000437639.1:p.Glu161Ter
ENST00000557933.5:c.862G>T ENSP00000453557.1:p.Glu288Ter
ENST00000558013.5:c.862G>T ENSP00000453346.1:p.Glu288Ter
ENST00000558518.5:c.862G>T ENSP00000454071.1:p.Glu288Ter
ENST00000558528.1:n.377G>T
ENST00000560467.1:c.462G>T
NM_000527.4:c.862G>T , LRG_274t1:c.862G>T NP_000518.1:p.Glu288Ter
NM_001195798.1:c.862G>T NP_001182727.1:p.Glu288Ter
NM_001195799.1:c.739G>T NP_001182728.1:p.Glu247Ter
NM_001195800.1:c.358G>T NP_001182729.1:p.Glu120Ter
NM_001195803.1:c.481G>T NP_001182732.1:p.Glu161Ter
XM_011528010.1:c.862G>T XP_011526312.1:p.Glu288Ter
XM_011528011.1:c.481G>T XP_011526313.1:p.Glu161Ter
XR_244074.2:n.1012G>T
XM_011528010.2:c.862G>T XP_011526312.1:p.Glu288Ter
XR_001753685.2:n.979G>T
XR_001753686.2:n.979G>T
NM_000527.5:c.862G>T MANE Select NP_000518.1:p.Glu288Ter
NM_001195798.2:c.862G>T NP_001182727.1:p.Glu288Ter
NM_001195799.2:c.739G>T NP_001182728.1:p.Glu247Ter
NM_001195800.2:c.358G>T NP_001182729.1:p.Glu120Ter
NM_001195803.2:c.481G>T NP_001182732.1:p.Glu161Ter
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