Canonical Allele Identifier: CA037328

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226378
• ClinVar RCV Id: RCV000211680
• dbSNP Id: rs765736500
• ExAC: 19:11230807 T / G
• gnomAD v2: 19-11230807-T-G
• gnomAD v4: 19-11120131-T-G
• MyVariant Identifiers: chr19:g.11230807T>G (hg19) ; chr19:g.11120131T>G (hg38)
• PubMed: PMID:22883975

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120131T>G , CM000681.2:g.11120131T>G	GRCh38
NC_000019.9:g.11230807T>G , CM000681.1:g.11230807T>G	GRCh37
NC_000019.8:g.11091807T>G	NCBI36
NG_009060.1:g.35751T>G , LRG_274:g.35751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2143T>G	ENSP00000252444.6:p.Phe715Val
ENST00000559340.2:c.1745T>G	ENSP00000453696.2:p.Phe582Cys
ENST00000560467.2:c.1765T>G	ENSP00000453513.2:p.Phe589Val
ENST00000558518.6:c.1885T>G MANE Select	ENSP00000454071.1:p.Phe629Val
ENST00000252444.9:c.2139T>G
ENST00000455727.6:c.1381T>G	ENSP00000397829.2:p.Phe461Val
ENST00000535915.5:c.1762T>G	ENSP00000440520.1:p.Phe588Val
ENST00000545707.5:c.1504T>G	ENSP00000437639.1:p.Phe502Val
ENST00000557933.5:c.1885T>G	ENSP00000453557.1:p.Phe629Val
ENST00000558013.5:c.1885T>G	ENSP00000453346.1:p.Phe629Val
ENST00000558518.5:c.1885T>G	ENSP00000454071.1:p.Phe629Val
ENST00000559340.1:c.466T>G
NM_000527.4:c.1885T>G , LRG_274t1:c.1885T>G	NP_000518.1:p.Phe629Val
NM_001195798.1:c.1885T>G	NP_001182727.1:p.Phe629Val
NM_001195799.1:c.1762T>G	NP_001182728.1:p.Phe588Val
NM_001195800.1:c.1381T>G	NP_001182729.1:p.Phe461Val
NM_001195803.1:c.1504T>G	NP_001182732.1:p.Phe502Val
XM_011528010.1:c.1885T>G	XP_011526312.1:p.Phe629Val
XM_011528011.1:c.1504T>G	XP_011526313.1:p.Phe502Val
XR_244074.2:n.1895T>G
XM_011528010.2:c.1885T>G	XP_011526312.1:p.Phe629Val
XR_001753685.2:n.2002T>G
XR_001753686.2:n.1862T>G
NM_000527.5:c.1885T>G MANE Select	NP_000518.1:p.Phe629Val
NM_001195798.2:c.1885T>G	NP_001182727.1:p.Phe629Val
NM_001195799.2:c.1762T>G	NP_001182728.1:p.Phe588Val
NM_001195800.2:c.1381T>G	NP_001182729.1:p.Phe461Val
NM_001195803.2:c.1504T>G	NP_001182732.1:p.Phe502Val