Canonical Allele Identifier: CA10585004

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251314
• ClinVar RCV Id: RCV000237736 ; RCV003391006
• dbSNP Id: rs879254586
• MyVariant Identifiers: chr19:g.11216181T>G (hg19) ; chr19:g.11105505T>G (hg38)
• PubMed: PMID:20538126

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105505T>G , CM000681.2:g.11105505T>G	GRCh38
NC_000019.9:g.11216181T>G , CM000681.1:g.11216181T>G	GRCh37
NC_000019.8:g.11077181T>G	NCBI36
NG_009060.1:g.21125T>G , LRG_274:g.21125T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.857T>G	ENSP00000252444.6:p.Phe286Cys
ENST00000559340.2:c.599T>G	ENSP00000453696.2:p.Phe200Cys
ENST00000560467.2:c.599T>G	ENSP00000453513.2:p.Phe200Cys
ENST00000558518.6:c.599T>G MANE Select	ENSP00000454071.1:p.Phe200Cys
ENST00000252444.9:c.853T>G
ENST00000455727.6:c.314-1887T>G	ENSP00000397829.2:n.314-1887T>G
ENST00000535915.5:c.476T>G	ENSP00000440520.1:p.Phe159Cys
ENST00000545707.5:c.314-1060T>G	ENSP00000437639.1:n.314-1060T>G
ENST00000557933.5:c.599T>G	ENSP00000453557.1:p.Phe200Cys
ENST00000558013.5:c.599T>G	ENSP00000453346.1:p.Phe200Cys
ENST00000558518.5:c.599T>G	ENSP00000454071.1:p.Phe200Cys
ENST00000560467.1:c.199T>G
NM_000527.4:c.599T>G , LRG_274t1:c.599T>G	NP_000518.1:p.Phe200Cys
NM_001195798.1:c.599T>G	NP_001182727.1:p.Phe200Cys
NM_001195799.1:c.476T>G	NP_001182728.1:p.Phe159Cys
NM_001195800.1:c.314-1887T>G	NP_001182729.1:n.314-1887T>G
NM_001195803.1:c.314-1060T>G	NP_001182732.1:n.314-1060T>G
XM_011528010.1:c.599T>G	XP_011526312.1:p.Phe200Cys
XM_011528011.1:c.314-1060T>G	XP_011526313.1:n.314-1060T>G
XR_244074.2:n.749T>G
XM_011528010.2:c.599T>G	XP_011526312.1:p.Phe200Cys
XR_001753685.2:n.716T>G
XR_001753686.2:n.716T>G
NM_000527.5:c.599T>G MANE Select	NP_000518.1:p.Phe200Cys
NM_001195798.2:c.599T>G	NP_001182727.1:p.Phe200Cys
NM_001195799.2:c.476T>G	NP_001182728.1:p.Phe159Cys
NM_001195800.2:c.314-1887T>G	NP_001182729.1:n.314-1887T>G
NM_001195803.2:c.314-1060T>G	NP_001182732.1:n.314-1060T>G