Canonical Allele Identifier: CA10585405

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251788
• ClinVar RCV Id: RCV000237269 ; RCV001220026
• dbSNP Id: rs879254865
• MyVariant Identifiers: chr19:g.11224093C>G (hg19) ; chr19:g.11113417C>G (hg38)
• PubMed: PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113417C>G , CM000681.2:g.11113417C>G	GRCh38
NC_000019.9:g.11224093C>G , CM000681.1:g.11224093C>G	GRCh37
NC_000019.8:g.11085093C>G	NCBI36
NG_009060.1:g.29037C>G , LRG_274:g.29037C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1584C>G	ENSP00000252444.6:p.Tyr528Ter
ENST00000559340.2:c.1326C>G	ENSP00000453696.2:p.Tyr442Ter
ENST00000560467.2:c.1206C>G	ENSP00000453513.2:p.Tyr402Ter
ENST00000558518.6:c.1326C>G MANE Select	ENSP00000454071.1:p.Tyr442Ter
ENST00000252444.9:c.1580C>G
ENST00000455727.6:c.822C>G	ENSP00000397829.2:p.Tyr274Ter
ENST00000535915.5:c.1203C>G	ENSP00000440520.1:p.Tyr401Ter
ENST00000545707.5:c.945C>G	ENSP00000437639.1:p.Tyr315Ter
ENST00000557933.5:c.1326C>G	ENSP00000453557.1:p.Tyr442Ter
ENST00000558013.5:c.1326C>G	ENSP00000453346.1:p.Tyr442Ter
ENST00000558518.5:c.1326C>G	ENSP00000454071.1:p.Tyr442Ter
ENST00000559340.1:c.47C>G
ENST00000560173.1:n.325C>G
ENST00000560467.1:c.806C>G
NM_000527.4:c.1326C>G , LRG_274t1:c.1326C>G	NP_000518.1:p.Tyr442Ter
NM_001195798.1:c.1326C>G	NP_001182727.1:p.Tyr442Ter
NM_001195799.1:c.1203C>G	NP_001182728.1:p.Tyr401Ter
NM_001195800.1:c.822C>G	NP_001182729.1:p.Tyr274Ter
NM_001195803.1:c.945C>G	NP_001182732.1:p.Tyr315Ter
XM_011528010.1:c.1326C>G	XP_011526312.1:p.Tyr442Ter
XM_011528011.1:c.945C>G	XP_011526313.1:p.Tyr315Ter
XR_244074.2:n.1476C>G
XM_011528010.2:c.1326C>G	XP_011526312.1:p.Tyr442Ter
XR_001753685.2:n.1443C>G
XR_001753686.2:n.1443C>G
NM_000527.5:c.1326C>G MANE Select	NP_000518.1:p.Tyr442Ter
NM_001195798.2:c.1326C>G	NP_001182727.1:p.Tyr442Ter
NM_001195799.2:c.1203C>G	NP_001182728.1:p.Tyr401Ter
NM_001195800.2:c.822C>G	NP_001182729.1:p.Tyr274Ter
NM_001195803.2:c.945C>G	NP_001182732.1:p.Tyr315Ter