Canonical Allele Identifier: CA10585174

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251502
• ClinVar RCV Id: RCV000238119 ; RCV001249084 ; RCV002374399
• dbSNP Id: rs879254707
• gnomAD v4: 19-11107461-G-A
• MyVariant Identifiers: chr19:g.11218137G>A (hg19) ; chr19:g.11107461G>A (hg38)
• PubMed: PMID:20809525 ; PMID:21722902 ; PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107461G>A , CM000681.2:g.11107461G>A	GRCh38
NC_000019.9:g.11218137G>A , CM000681.1:g.11218137G>A	GRCh37
NC_000019.8:g.11079137G>A	NCBI36
NG_009060.1:g.23081G>A , LRG_274:g.23081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1145G>A	ENSP00000252444.6:p.Cys382Tyr
ENST00000559340.2:c.887G>A	ENSP00000453696.2:p.Cys296Tyr
ENST00000560467.2:c.887G>A	ENSP00000453513.2:p.Cys296Tyr
ENST00000558518.6:c.887G>A MANE Select	ENSP00000454071.1:p.Cys296Tyr
ENST00000252444.9:c.1141G>A
ENST00000455727.6:c.383G>A	ENSP00000397829.2:p.Cys128Tyr
ENST00000535915.5:c.764G>A	ENSP00000440520.1:p.Cys255Tyr
ENST00000545707.5:c.506G>A	ENSP00000437639.1:p.Cys169Tyr
ENST00000557933.5:c.887G>A	ENSP00000453557.1:p.Cys296Tyr
ENST00000558013.5:c.887G>A	ENSP00000453346.1:p.Cys296Tyr
ENST00000558518.5:c.887G>A	ENSP00000454071.1:p.Cys296Tyr
ENST00000558528.1:n.402G>A
ENST00000560467.1:c.487G>A
NM_000527.4:c.887G>A , LRG_274t1:c.887G>A	NP_000518.1:p.Cys296Tyr
NM_001195798.1:c.887G>A	NP_001182727.1:p.Cys296Tyr
NM_001195799.1:c.764G>A	NP_001182728.1:p.Cys255Tyr
NM_001195800.1:c.383G>A	NP_001182729.1:p.Cys128Tyr
NM_001195803.1:c.506G>A	NP_001182732.1:p.Cys169Tyr
XM_011528010.1:c.887G>A	XP_011526312.1:p.Cys296Tyr
XM_011528011.1:c.506G>A	XP_011526313.1:p.Cys169Tyr
XR_244074.2:n.1037G>A
XM_011528010.2:c.887G>A	XP_011526312.1:p.Cys296Tyr
XR_001753685.2:n.1004G>A
XR_001753686.2:n.1004G>A
NM_000527.5:c.887G>A MANE Select	NP_000518.1:p.Cys296Tyr
NM_001195798.2:c.887G>A	NP_001182727.1:p.Cys296Tyr
NM_001195799.2:c.764G>A	NP_001182728.1:p.Cys255Tyr
NM_001195800.2:c.383G>A	NP_001182729.1:p.Cys128Tyr
NM_001195803.2:c.506G>A	NP_001182732.1:p.Cys169Tyr