Canonical Allele Identifier: CA10585404

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251787
• ClinVar RCV Id: RCV000238215 ; RCV003298315
• dbSNP Id: rs879254864
• MyVariant Identifiers: chr19:g.11224092A>G (hg19) ; chr19:g.11113416A>G (hg38)
• PubMed: PMID:15576851 ; PMID:20828696 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113416A>G , CM000681.2:g.11113416A>G	GRCh38
NC_000019.9:g.11224092A>G , CM000681.1:g.11224092A>G	GRCh37
NC_000019.8:g.11085092A>G	NCBI36
NG_009060.1:g.29036A>G , LRG_274:g.29036A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1583A>G	ENSP00000252444.6:p.Tyr528Cys
ENST00000559340.2:c.1325A>G	ENSP00000453696.2:p.Tyr442Cys
ENST00000560467.2:c.1205A>G	ENSP00000453513.2:p.Tyr402Cys
ENST00000558518.6:c.1325A>G MANE Select	ENSP00000454071.1:p.Tyr442Cys
ENST00000252444.9:c.1579A>G
ENST00000455727.6:c.821A>G	ENSP00000397829.2:p.Tyr274Cys
ENST00000535915.5:c.1202A>G	ENSP00000440520.1:p.Tyr401Cys
ENST00000545707.5:c.944A>G	ENSP00000437639.1:p.Tyr315Cys
ENST00000557933.5:c.1325A>G	ENSP00000453557.1:p.Tyr442Cys
ENST00000558013.5:c.1325A>G	ENSP00000453346.1:p.Tyr442Cys
ENST00000558518.5:c.1325A>G	ENSP00000454071.1:p.Tyr442Cys
ENST00000559340.1:c.46A>G
ENST00000560173.1:n.324A>G
ENST00000560467.1:c.805A>G
NM_000527.4:c.1325A>G , LRG_274t1:c.1325A>G	NP_000518.1:p.Tyr442Cys
NM_001195798.1:c.1325A>G	NP_001182727.1:p.Tyr442Cys
NM_001195799.1:c.1202A>G	NP_001182728.1:p.Tyr401Cys
NM_001195800.1:c.821A>G	NP_001182729.1:p.Tyr274Cys
NM_001195803.1:c.944A>G	NP_001182732.1:p.Tyr315Cys
XM_011528010.1:c.1325A>G	XP_011526312.1:p.Tyr442Cys
XM_011528011.1:c.944A>G	XP_011526313.1:p.Tyr315Cys
XR_244074.2:n.1475A>G
XM_011528010.2:c.1325A>G	XP_011526312.1:p.Tyr442Cys
XR_001753685.2:n.1442A>G
XR_001753686.2:n.1442A>G
NM_000527.5:c.1325A>G MANE Select	NP_000518.1:p.Tyr442Cys
NM_001195798.2:c.1325A>G	NP_001182727.1:p.Tyr442Cys
NM_001195799.2:c.1202A>G	NP_001182728.1:p.Tyr401Cys
NM_001195800.2:c.821A>G	NP_001182729.1:p.Tyr274Cys
NM_001195803.2:c.944A>G	NP_001182732.1:p.Tyr315Cys