Canonical Allele Identifier: CA10585393

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251774
• ClinVar RCV Id: RCV000237295
• dbSNP Id: rs745343524
• gnomAD v4: 19-11113392-C-G
• MyVariant Identifiers: chr19:g.11224068C>G (hg19) ; chr19:g.11113392C>G (hg38)
• PubMed: PMID:10634824 ; PMID:11668640 ; PMID:11737238 ; PMID:11810272
• ERepo: CA10585393/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113392C>G , CM000681.2:g.11113392C>G	GRCh38
NC_000019.9:g.11224068C>G , CM000681.1:g.11224068C>G	GRCh37
NC_000019.8:g.11085068C>G	NCBI36
NG_009060.1:g.29012C>G , LRG_274:g.29012C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1559C>G	ENSP00000252444.6:p.Thr520Arg
ENST00000559340.2:c.1301C>G	ENSP00000453696.2:p.Thr434Arg
ENST00000560467.2:c.1181C>G	ENSP00000453513.2:p.Thr394Arg
ENST00000558518.6:c.1301C>G MANE Select	ENSP00000454071.1:p.Thr434Arg
ENST00000252444.9:c.1555C>G
ENST00000455727.6:c.797C>G	ENSP00000397829.2:p.Thr266Arg
ENST00000535915.5:c.1178C>G	ENSP00000440520.1:p.Thr393Arg
ENST00000545707.5:c.920C>G	ENSP00000437639.1:p.Thr307Arg
ENST00000557933.5:c.1301C>G	ENSP00000453557.1:p.Thr434Arg
ENST00000558013.5:c.1301C>G	ENSP00000453346.1:p.Thr434Arg
ENST00000558518.5:c.1301C>G	ENSP00000454071.1:p.Thr434Arg
ENST00000559340.1:c.22C>G
ENST00000560173.1:n.300C>G
ENST00000560467.1:c.781C>G
NM_000527.4:c.1301C>G , LRG_274t1:c.1301C>G	NP_000518.1:p.Thr434Arg
NM_001195798.1:c.1301C>G	NP_001182727.1:p.Thr434Arg
NM_001195799.1:c.1178C>G	NP_001182728.1:p.Thr393Arg
NM_001195800.1:c.797C>G	NP_001182729.1:p.Thr266Arg
NM_001195803.1:c.920C>G	NP_001182732.1:p.Thr307Arg
XM_011528010.1:c.1301C>G	XP_011526312.1:p.Thr434Arg
XM_011528011.1:c.920C>G	XP_011526313.1:p.Thr307Arg
XR_244074.2:n.1451C>G
XM_011528010.2:c.1301C>G	XP_011526312.1:p.Thr434Arg
XR_001753685.2:n.1418C>G
XR_001753686.2:n.1418C>G
NM_000527.5:c.1301C>G MANE Select	NP_000518.1:p.Thr434Arg
NM_001195798.2:c.1301C>G	NP_001182727.1:p.Thr434Arg
NM_001195799.2:c.1178C>G	NP_001182728.1:p.Thr393Arg
NM_001195800.2:c.797C>G	NP_001182729.1:p.Thr266Arg
NM_001195803.2:c.920C>G	NP_001182732.1:p.Thr307Arg