Canonical Allele Identifier: CA10585583

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251999
• ClinVar RCV Id: RCV000237843 ; RCV001223410 ; RCV001800609
• dbSNP Id: rs879254999
• gnomAD v4: 19-11116880-A-G
• MyVariant Identifiers: chr19:g.11227556A>G (hg19) ; chr19:g.11116880A>G (hg38)
• PubMed: PMID:15199436 ; PMID:15823288

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116880A>G , CM000681.2:g.11116880A>G	GRCh38
NC_000019.9:g.11227556A>G , CM000681.1:g.11227556A>G	GRCh37
NC_000019.8:g.11088556A>G	NCBI36
NG_009060.1:g.32500A>G , LRG_274:g.32500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1985A>G	ENSP00000252444.6:p.Tyr662Cys
ENST00000559340.2:c.1705+668A>G	ENSP00000453696.2:n.1705+668A>G
ENST00000560467.2:c.1607A>G	ENSP00000453513.2:p.Tyr536Cys
ENST00000558518.6:c.1727A>G MANE Select	ENSP00000454071.1:p.Tyr576Cys
ENST00000252444.9:c.1981A>G
ENST00000455727.6:c.1223A>G	ENSP00000397829.2:p.Tyr408Cys
ENST00000535915.5:c.1604A>G	ENSP00000440520.1:p.Tyr535Cys
ENST00000545707.5:c.1346A>G	ENSP00000437639.1:p.Tyr449Cys
ENST00000557933.5:c.1727A>G	ENSP00000453557.1:p.Tyr576Cys
ENST00000558013.5:c.1727A>G	ENSP00000453346.1:p.Tyr576Cys
ENST00000558518.5:c.1727A>G	ENSP00000454071.1:p.Tyr576Cys
ENST00000559340.1:c.426+668A>G
NM_000527.4:c.1727A>G , LRG_274t1:c.1727A>G	NP_000518.1:p.Tyr576Cys
NM_001195798.1:c.1727A>G	NP_001182727.1:p.Tyr576Cys
NM_001195799.1:c.1604A>G	NP_001182728.1:p.Tyr535Cys
NM_001195800.1:c.1223A>G	NP_001182729.1:p.Tyr408Cys
NM_001195803.1:c.1346A>G	NP_001182732.1:p.Tyr449Cys
XM_011528010.1:c.1727A>G	XP_011526312.1:p.Tyr576Cys
XM_011528011.1:c.1346A>G	XP_011526313.1:p.Tyr449Cys
XR_244074.2:n.1855+668A>G
XM_011528010.2:c.1727A>G	XP_011526312.1:p.Tyr576Cys
XR_001753685.2:n.1844A>G
XR_001753686.2:n.1822+668A>G
NM_000527.5:c.1727A>G MANE Select	NP_000518.1:p.Tyr576Cys
NM_001195798.2:c.1727A>G	NP_001182727.1:p.Tyr576Cys
NM_001195799.2:c.1604A>G	NP_001182728.1:p.Tyr535Cys
NM_001195800.2:c.1223A>G	NP_001182729.1:p.Tyr408Cys
NM_001195803.2:c.1346A>G	NP_001182732.1:p.Tyr449Cys