Canonical Allele Identifier: CA10585281

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251638
• ClinVar RCV Id: RCV000238540
• dbSNP Id: rs755449669
• gnomAD v4: 19-11111514-A-C
• MyVariant Identifiers: chr19:g.11222190A>C (hg19) ; chr19:g.11111514A>C (hg38)
• PubMed: PMID:11754108 ; PMID:20145306 ; PMID:20809525 ; PMID:21310417 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111514A>C , CM000681.2:g.11111514A>C	GRCh38
NC_000019.9:g.11222190A>C , CM000681.1:g.11222190A>C	GRCh37
NC_000019.8:g.11083190A>C	NCBI36
NG_009060.1:g.27134A>C , LRG_274:g.27134A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1319A>C	ENSP00000252444.6:p.Asp440Ala
ENST00000559340.2:c.1061A>C	ENSP00000453696.2:p.Asp354Ala
ENST00000560467.2:c.941A>C	ENSP00000453513.2:p.Asp314Ala
ENST00000558518.6:c.1061A>C MANE Select	ENSP00000454071.1:p.Asp354Ala
ENST00000252444.9:c.1315A>C
ENST00000455727.6:c.557A>C	ENSP00000397829.2:p.Asp186Ala
ENST00000535915.5:c.938A>C	ENSP00000440520.1:p.Asp313Ala
ENST00000545707.5:c.680A>C	ENSP00000437639.1:p.Asp227Ala
ENST00000557933.5:c.1061A>C	ENSP00000453557.1:p.Asp354Ala
ENST00000558013.5:c.1061A>C	ENSP00000453346.1:p.Asp354Ala
ENST00000558518.5:c.1061A>C	ENSP00000454071.1:p.Asp354Ala
ENST00000560173.1:n.60A>C
ENST00000560467.1:c.541A>C
NM_000527.4:c.1061A>C , LRG_274t1:c.1061A>C	NP_000518.1:p.Asp354Ala
NM_001195798.1:c.1061A>C	NP_001182727.1:p.Asp354Ala
NM_001195799.1:c.938A>C	NP_001182728.1:p.Asp313Ala
NM_001195800.1:c.557A>C	NP_001182729.1:p.Asp186Ala
NM_001195803.1:c.680A>C	NP_001182732.1:p.Asp227Ala
XM_011528010.1:c.1061A>C	XP_011526312.1:p.Asp354Ala
XM_011528011.1:c.680A>C	XP_011526313.1:p.Asp227Ala
XR_244074.2:n.1211A>C
XM_011528010.2:c.1061A>C	XP_011526312.1:p.Asp354Ala
XR_001753685.2:n.1178A>C
XR_001753686.2:n.1178A>C
NM_000527.5:c.1061A>C MANE Select	NP_000518.1:p.Asp354Ala
NM_001195798.2:c.1061A>C	NP_001182727.1:p.Asp354Ala
NM_001195799.2:c.938A>C	NP_001182728.1:p.Asp313Ala
NM_001195800.2:c.557A>C	NP_001182729.1:p.Asp186Ala
NM_001195803.2:c.680A>C	NP_001182732.1:p.Asp227Ala