Canonical Allele Identifier: CA10585584

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252001
• ClinVar RCV Id: RCV001529326 ; RCV002411087
• dbSNP Id: rs879255000
• gnomAD v4: 19-11116882-T-C
• MyVariant Identifiers: chr19:g.11227558T>C (hg19) ; chr19:g.11116882T>C (hg38)
• PubMed: PMID:11810272 ; PMID:12436241 ; PMID:15199436 ; PMID:15823276 ; PMID:18339137 ; PMID:19040724 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116882T>C , CM000681.2:g.11116882T>C	GRCh38
NC_000019.9:g.11227558T>C , CM000681.1:g.11227558T>C	GRCh37
NC_000019.8:g.11088558T>C	NCBI36
NG_009060.1:g.32502T>C , LRG_274:g.32502T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1987T>C	ENSP00000252444.6:p.Trp663Arg
ENST00000559340.2:c.1705+670T>C	ENSP00000453696.2:n.1705+670T>C
ENST00000560467.2:c.1609T>C	ENSP00000453513.2:p.Trp537Arg
ENST00000558518.6:c.1729T>C MANE Select	ENSP00000454071.1:p.Trp577Arg
ENST00000252444.9:c.1983T>C
ENST00000455727.6:c.1225T>C	ENSP00000397829.2:p.Trp409Arg
ENST00000535915.5:c.1606T>C	ENSP00000440520.1:p.Trp536Arg
ENST00000545707.5:c.1348T>C	ENSP00000437639.1:p.Trp450Arg
ENST00000557933.5:c.1729T>C	ENSP00000453557.1:p.Trp577Arg
ENST00000558013.5:c.1729T>C	ENSP00000453346.1:p.Trp577Arg
ENST00000558518.5:c.1729T>C	ENSP00000454071.1:p.Trp577Arg
ENST00000559340.1:c.426+670T>C
NM_000527.4:c.1729T>C , LRG_274t1:c.1729T>C	NP_000518.1:p.Trp577Arg
NM_001195798.1:c.1729T>C	NP_001182727.1:p.Trp577Arg
NM_001195799.1:c.1606T>C	NP_001182728.1:p.Trp536Arg
NM_001195800.1:c.1225T>C	NP_001182729.1:p.Trp409Arg
NM_001195803.1:c.1348T>C	NP_001182732.1:p.Trp450Arg
XM_011528010.1:c.1729T>C	XP_011526312.1:p.Trp577Arg
XM_011528011.1:c.1348T>C	XP_011526313.1:p.Trp450Arg
XR_244074.2:n.1855+670T>C
XM_011528010.2:c.1729T>C	XP_011526312.1:p.Trp577Arg
XR_001753685.2:n.1846T>C
XR_001753686.2:n.1822+670T>C
NM_000527.5:c.1729T>C MANE Select	NP_000518.1:p.Trp577Arg
NM_001195798.2:c.1729T>C	NP_001182727.1:p.Trp577Arg
NM_001195799.2:c.1606T>C	NP_001182728.1:p.Trp536Arg
NM_001195800.2:c.1225T>C	NP_001182729.1:p.Trp409Arg
NM_001195803.2:c.1348T>C	NP_001182732.1:p.Trp450Arg