Canonical Allele Identifier: CA10585241
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251588
ClinVar RCV Id: RCV000237664 RCV001804975
dbSNP Id: rs879254750
MyVariant Identifiers: chr19:g.11221394A>G (hg19) chr19:g.11110718A>G (hg38)
PubMed: PMID:20809525
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110718A>G , CM000681.2:g.11110718A>G GRCh38
NC_000019.9:g.11221394A>G , CM000681.1:g.11221394A>G GRCh37
NC_000019.8:g.11082394A>G NCBI36
NG_009060.1:g.26338A>G , LRG_274:g.26338A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1265A>G ENSP00000252444.6:p.Tyr422Cys
ENST00000559340.2:c.1007A>G ENSP00000453696.2:p.Tyr336Cys
ENST00000560467.2:c.941-796A>G ENSP00000453513.2:n.941-796A>G
ENST00000558518.6:c.1007A>G MANE Select ENSP00000454071.1:p.Tyr336Cys
ENST00000252444.9:c.1261A>G
ENST00000455727.6:c.503A>G ENSP00000397829.2:p.Tyr168Cys
ENST00000535915.5:c.884A>G ENSP00000440520.1:p.Tyr295Cys
ENST00000545707.5:c.626A>G ENSP00000437639.1:p.Tyr209Cys
ENST00000557933.5:c.1007A>G ENSP00000453557.1:p.Tyr336Cys
ENST00000558013.5:c.1007A>G ENSP00000453346.1:p.Tyr336Cys
ENST00000558518.5:c.1007A>G ENSP00000454071.1:p.Tyr336Cys
ENST00000560173.1:n.6A>G
ENST00000560467.1:c.541-796A>G
NM_000527.4:c.1007A>G , LRG_274t1:c.1007A>G NP_000518.1:p.Tyr336Cys
NM_001195798.1:c.1007A>G NP_001182727.1:p.Tyr336Cys
NM_001195799.1:c.884A>G NP_001182728.1:p.Tyr295Cys
NM_001195800.1:c.503A>G NP_001182729.1:p.Tyr168Cys
NM_001195803.1:c.626A>G NP_001182732.1:p.Tyr209Cys
XM_011528010.1:c.1007A>G XP_011526312.1:p.Tyr336Cys
XM_011528011.1:c.626A>G XP_011526313.1:p.Tyr209Cys
XR_244074.2:n.1157A>G
XM_011528010.2:c.1007A>G XP_011526312.1:p.Tyr336Cys
XR_001753685.2:n.1124A>G
XR_001753686.2:n.1124A>G
NM_000527.5:c.1007A>G MANE Select NP_000518.1:p.Tyr336Cys
NM_001195798.2:c.1007A>G NP_001182727.1:p.Tyr336Cys
NM_001195799.2:c.884A>G NP_001182728.1:p.Tyr295Cys
NM_001195800.2:c.503A>G NP_001182729.1:p.Tyr168Cys
NM_001195803.2:c.626A>G NP_001182732.1:p.Tyr209Cys
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