Canonical Allele Identifier: CA10584903

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251204
• ClinVar RCV Id: RCV000237376 ; RCV000775037 ; RCV003148692
• dbSNP Id: rs879254514
• MyVariant Identifiers: chr19:g.11215983G>T (hg19) ; chr19:g.11105307G>T (hg38)
• PubMed: PMID:10978268 ; PMID:11462246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105307G>T , CM000681.2:g.11105307G>T	GRCh38
NC_000019.9:g.11215983G>T , CM000681.1:g.11215983G>T	GRCh37
NC_000019.8:g.11076983G>T	NCBI36
NG_009060.1:g.20927G>T , LRG_274:g.20927G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.659G>T	ENSP00000252444.6:p.Cys220Phe
ENST00000559340.2:c.401G>T	ENSP00000453696.2:p.Cys134Phe
ENST00000560467.2:c.401G>T	ENSP00000453513.2:p.Cys134Phe
ENST00000558518.6:c.401G>T MANE Select	ENSP00000454071.1:p.Cys134Phe
ENST00000252444.9:c.655G>T
ENST00000455727.6:c.314-2085G>T	ENSP00000397829.2:n.314-2085G>T
ENST00000535915.5:c.278G>T	ENSP00000440520.1:p.Cys93Phe
ENST00000545707.5:c.314-1258G>T	ENSP00000437639.1:n.314-1258G>T
ENST00000557933.5:c.401G>T	ENSP00000453557.1:p.Cys134Phe
ENST00000558013.5:c.401G>T	ENSP00000453346.1:p.Cys134Phe
ENST00000558518.5:c.401G>T	ENSP00000454071.1:p.Cys134Phe
ENST00000560467.1:c.1G>T
NM_000527.4:c.401G>T , LRG_274t1:c.401G>T	NP_000518.1:p.Cys134Phe
NM_001195798.1:c.401G>T	NP_001182727.1:p.Cys134Phe
NM_001195799.1:c.278G>T	NP_001182728.1:p.Cys93Phe
NM_001195800.1:c.314-2085G>T	NP_001182729.1:n.314-2085G>T
NM_001195803.1:c.314-1258G>T	NP_001182732.1:n.314-1258G>T
XM_011528010.1:c.401G>T	XP_011526312.1:p.Cys134Phe
XM_011528011.1:c.314-1258G>T	XP_011526313.1:n.314-1258G>T
XR_244074.2:n.551G>T
XM_011528010.2:c.401G>T	XP_011526312.1:p.Cys134Phe
XR_001753685.2:n.518G>T
XR_001753686.2:n.518G>T
NM_000527.5:c.401G>T MANE Select	NP_000518.1:p.Cys134Phe
NM_001195798.2:c.401G>T	NP_001182727.1:p.Cys134Phe
NM_001195799.2:c.278G>T	NP_001182728.1:p.Cys93Phe
NM_001195800.2:c.314-2085G>T	NP_001182729.1:n.314-2085G>T
NM_001195803.2:c.314-1258G>T	NP_001182732.1:n.314-1258G>T