Canonical Allele Identifier: CA10585238
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251585
ClinVar RCV Id: RCV000237877
dbSNP Id: rs879254749
MyVariant Identifiers: chr19:g.11221372T>G (hg19) chr19:g.11110696T>G (hg38)
PubMed: PMID:8882879 PMID:12436241
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110696T>G , CM000681.2:g.11110696T>G GRCh38
NC_000019.9:g.11221372T>G , CM000681.1:g.11221372T>G GRCh37
NC_000019.8:g.11082372T>G NCBI36
NG_009060.1:g.26316T>G , LRG_274:g.26316T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1243T>G ENSP00000252444.6:p.Cys415Gly
ENST00000559340.2:c.985T>G ENSP00000453696.2:p.Cys329Gly
ENST00000560467.2:c.941-818T>G ENSP00000453513.2:n.941-818T>G
ENST00000558518.6:c.985T>G MANE Select ENSP00000454071.1:p.Cys329Gly
ENST00000252444.9:c.1239T>G
ENST00000455727.6:c.481T>G ENSP00000397829.2:p.Cys161Gly
ENST00000535915.5:c.862T>G ENSP00000440520.1:p.Cys288Gly
ENST00000545707.5:c.604T>G ENSP00000437639.1:p.Cys202Gly
ENST00000557933.5:c.985T>G ENSP00000453557.1:p.Cys329Gly
ENST00000558013.5:c.985T>G ENSP00000453346.1:p.Cys329Gly
ENST00000558518.5:c.985T>G ENSP00000454071.1:p.Cys329Gly
ENST00000560467.1:c.541-818T>G
NM_000527.4:c.985T>G , LRG_274t1:c.985T>G NP_000518.1:p.Cys329Gly
NM_001195798.1:c.985T>G NP_001182727.1:p.Cys329Gly
NM_001195799.1:c.862T>G NP_001182728.1:p.Cys288Gly
NM_001195800.1:c.481T>G NP_001182729.1:p.Cys161Gly
NM_001195803.1:c.604T>G NP_001182732.1:p.Cys202Gly
XM_011528010.1:c.985T>G XP_011526312.1:p.Cys329Gly
XM_011528011.1:c.604T>G XP_011526313.1:p.Cys202Gly
XR_244074.2:n.1135T>G
XM_011528010.2:c.985T>G XP_011526312.1:p.Cys329Gly
XR_001753685.2:n.1102T>G
XR_001753686.2:n.1102T>G
NM_000527.5:c.985T>G MANE Select NP_000518.1:p.Cys329Gly
NM_001195798.2:c.985T>G NP_001182727.1:p.Cys329Gly
NM_001195799.2:c.862T>G NP_001182728.1:p.Cys288Gly
NM_001195800.2:c.481T>G NP_001182729.1:p.Cys161Gly
NM_001195803.2:c.604T>G NP_001182732.1:p.Cys202Gly
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