Canonical Allele Identifier: CA10585400

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251783
• ClinVar RCV Id: RCV000237607 ; RCV000775063 ; RCV002379061
• dbSNP Id: rs879254862
• MyVariant Identifiers: chr19:g.11224089T>C (hg19) ; chr19:g.11113413T>C (hg38)
• PubMed: PMID:11810272 ; PMID:16092059 ; PMID:20538126 ; PMID:20828696 ; PMID:25741862
• ERepo: CA10585400/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113413T>C , CM000681.2:g.11113413T>C	GRCh38
NC_000019.9:g.11224089T>C , CM000681.1:g.11224089T>C	GRCh37
NC_000019.8:g.11085089T>C	NCBI36
NG_009060.1:g.29033T>C , LRG_274:g.29033T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1580T>C	ENSP00000252444.6:p.Ile527Thr
ENST00000559340.2:c.1322T>C	ENSP00000453696.2:p.Ile441Thr
ENST00000560467.2:c.1202T>C	ENSP00000453513.2:p.Ile401Thr
ENST00000558518.6:c.1322T>C MANE Select	ENSP00000454071.1:p.Ile441Thr
ENST00000252444.9:c.1576T>C
ENST00000455727.6:c.818T>C	ENSP00000397829.2:p.Ile273Thr
ENST00000535915.5:c.1199T>C	ENSP00000440520.1:p.Ile400Thr
ENST00000545707.5:c.941T>C	ENSP00000437639.1:p.Ile314Thr
ENST00000557933.5:c.1322T>C	ENSP00000453557.1:p.Ile441Thr
ENST00000558013.5:c.1322T>C	ENSP00000453346.1:p.Ile441Thr
ENST00000558518.5:c.1322T>C	ENSP00000454071.1:p.Ile441Thr
ENST00000559340.1:c.43T>C
ENST00000560173.1:n.321T>C
ENST00000560467.1:c.802T>C
NM_000527.4:c.1322T>C , LRG_274t1:c.1322T>C	NP_000518.1:p.Ile441Thr
NM_001195798.1:c.1322T>C	NP_001182727.1:p.Ile441Thr
NM_001195799.1:c.1199T>C	NP_001182728.1:p.Ile400Thr
NM_001195800.1:c.818T>C	NP_001182729.1:p.Ile273Thr
NM_001195803.1:c.941T>C	NP_001182732.1:p.Ile314Thr
XM_011528010.1:c.1322T>C	XP_011526312.1:p.Ile441Thr
XM_011528011.1:c.941T>C	XP_011526313.1:p.Ile314Thr
XR_244074.2:n.1472T>C
XM_011528010.2:c.1322T>C	XP_011526312.1:p.Ile441Thr
XR_001753685.2:n.1439T>C
XR_001753686.2:n.1439T>C
NM_000527.5:c.1322T>C MANE Select	NP_000518.1:p.Ile441Thr
NM_001195798.2:c.1322T>C	NP_001182727.1:p.Ile441Thr
NM_001195799.2:c.1199T>C	NP_001182728.1:p.Ile400Thr
NM_001195800.2:c.818T>C	NP_001182729.1:p.Ile273Thr
NM_001195803.2:c.941T>C	NP_001182732.1:p.Ile314Thr