Canonical Allele Identifier: CA10585781

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252228
• ClinVar RCV Id: RCV000238145
• dbSNP Id: rs879255144
• MyVariant Identifiers: chr19:g.11231189T>A (hg19) ; chr19:g.11120513T>A (hg38)
• PubMed: PMID:11810272 ; PMID:14974088

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120513T>A , CM000681.2:g.11120513T>A	GRCh38
NC_000019.9:g.11231189T>A , CM000681.1:g.11231189T>A	GRCh37
NC_000019.8:g.11092189T>A	NCBI36
NG_009060.1:g.36133T>A , LRG_274:g.36133T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2389T>A	ENSP00000252444.6:p.Cys797Ser
ENST00000559340.2:c.*200T>A	ENSP00000453696.2:n.*200T>A
ENST00000560467.2:c.2011T>A	ENSP00000453513.2:p.Cys671Ser
ENST00000558518.6:c.2131T>A MANE Select	ENSP00000454071.1:p.Cys711Ser
ENST00000252444.9:c.2385T>A
ENST00000455727.6:c.1627T>A	ENSP00000397829.2:p.Cys543Ser
ENST00000535915.5:c.2008T>A	ENSP00000440520.1:p.Cys670Ser
ENST00000545707.5:c.1606+280T>A	ENSP00000437639.1:n.1606+280T>A
ENST00000557933.5:c.2131T>A	ENSP00000453557.1:p.Cys711Ser
ENST00000558013.5:c.2131T>A	ENSP00000453346.1:p.Cys711Ser
ENST00000558518.5:c.2131T>A	ENSP00000454071.1:p.Cys711Ser
NM_000527.4:c.2131T>A , LRG_274t1:c.2131T>A	NP_000518.1:p.Cys711Ser
NM_001195798.1:c.2131T>A	NP_001182727.1:p.Cys711Ser
NM_001195799.1:c.2008T>A	NP_001182728.1:p.Cys670Ser
NM_001195800.1:c.1627T>A	NP_001182729.1:p.Cys543Ser
NM_001195803.1:c.1606+280T>A	NP_001182732.1:n.1606+280T>A
XM_011528010.1:c.2131T>A	XP_011526312.1:p.Cys711Ser
XM_011528011.1:c.1750T>A	XP_011526313.1:p.Cys584Ser
XR_244074.2:n.2141T>A
XM_011528010.2:c.2131T>A	XP_011526312.1:p.Cys711Ser
XR_001753685.2:n.2248T>A
XR_001753686.2:n.2108T>A
NM_000527.5:c.2131T>A MANE Select	NP_000518.1:p.Cys711Ser
NM_001195798.2:c.2131T>A	NP_001182727.1:p.Cys711Ser
NM_001195799.2:c.2008T>A	NP_001182728.1:p.Cys670Ser
NM_001195800.2:c.1627T>A	NP_001182729.1:p.Cys543Ser
NM_001195803.2:c.1606+280T>A	NP_001182732.1:n.1606+280T>A