Canonical Allele Identifier: CA10584914

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251217
• ClinVar RCV Id: RCV000237560 ; RCV000786159 ; RCV001243628
• dbSNP Id: rs879254520
• MyVariant Identifiers: chr19:g.11216002G>T (hg19) ; chr19:g.11105326G>T (hg38)
• PubMed: PMID:21310417

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105326G>T , CM000681.2:g.11105326G>T	GRCh38
NC_000019.9:g.11216002G>T , CM000681.1:g.11216002G>T	GRCh37
NC_000019.8:g.11077002G>T	NCBI36
NG_009060.1:g.20946G>T , LRG_274:g.20946G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.678G>T	ENSP00000252444.6:p.Glu226Asp
ENST00000559340.2:c.420G>T	ENSP00000453696.2:p.Glu140Asp
ENST00000560467.2:c.420G>T	ENSP00000453513.2:p.Glu140Asp
ENST00000558518.6:c.420G>T MANE Select	ENSP00000454071.1:p.Glu140Asp
ENST00000252444.9:c.674G>T
ENST00000455727.6:c.314-2066G>T	ENSP00000397829.2:n.314-2066G>T
ENST00000535915.5:c.297G>T	ENSP00000440520.1:p.Glu99Asp
ENST00000545707.5:c.314-1239G>T	ENSP00000437639.1:n.314-1239G>T
ENST00000557933.5:c.420G>T	ENSP00000453557.1:p.Glu140Asp
ENST00000558013.5:c.420G>T	ENSP00000453346.1:p.Glu140Asp
ENST00000558518.5:c.420G>T	ENSP00000454071.1:p.Glu140Asp
ENST00000560467.1:c.20G>T
NM_000527.4:c.420G>T , LRG_274t1:c.420G>T	NP_000518.1:p.Glu140Asp
NM_001195798.1:c.420G>T	NP_001182727.1:p.Glu140Asp
NM_001195799.1:c.297G>T	NP_001182728.1:p.Glu99Asp
NM_001195800.1:c.314-2066G>T	NP_001182729.1:n.314-2066G>T
NM_001195803.1:c.314-1239G>T	NP_001182732.1:n.314-1239G>T
XM_011528010.1:c.420G>T	XP_011526312.1:p.Glu140Asp
XM_011528011.1:c.314-1239G>T	XP_011526313.1:n.314-1239G>T
XR_244074.2:n.570G>T
XM_011528010.2:c.420G>T	XP_011526312.1:p.Glu140Asp
XR_001753685.2:n.537G>T
XR_001753686.2:n.537G>T
NM_000527.5:c.420G>T MANE Select	NP_000518.1:p.Glu140Asp
NM_001195798.2:c.420G>T	NP_001182727.1:p.Glu140Asp
NM_001195799.2:c.297G>T	NP_001182728.1:p.Glu99Asp
NM_001195800.2:c.314-2066G>T	NP_001182729.1:n.314-2066G>T
NM_001195803.2:c.314-1239G>T	NP_001182732.1:n.314-1239G>T