Canonical Allele Identifier: CA10585387

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251768
• ClinVar RCV Id: RCV000237213
• dbSNP Id: rs879254853
• MyVariant Identifiers: chr19:g.11224055G>C (hg19) ; chr19:g.11113379G>C (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113379G>C , CM000681.2:g.11113379G>C	GRCh38
NC_000019.9:g.11224055G>C , CM000681.1:g.11224055G>C	GRCh37
NC_000019.8:g.11085055G>C	NCBI36
NG_009060.1:g.28999G>C , LRG_274:g.28999G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1546G>C	ENSP00000252444.6:p.Val516Leu
ENST00000559340.2:c.1288G>C	ENSP00000453696.2:p.Val430Leu
ENST00000560467.2:c.1168G>C	ENSP00000453513.2:p.Val390Leu
ENST00000558518.6:c.1288G>C MANE Select	ENSP00000454071.1:p.Val430Leu
ENST00000252444.9:c.1542G>C
ENST00000455727.6:c.784G>C	ENSP00000397829.2:p.Val262Leu
ENST00000535915.5:c.1165G>C	ENSP00000440520.1:p.Val389Leu
ENST00000545707.5:c.907G>C	ENSP00000437639.1:p.Val303Leu
ENST00000557933.5:c.1288G>C	ENSP00000453557.1:p.Val430Leu
ENST00000558013.5:c.1288G>C	ENSP00000453346.1:p.Val430Leu
ENST00000558518.5:c.1288G>C	ENSP00000454071.1:p.Val430Leu
ENST00000559340.1:c.9G>C
ENST00000560173.1:n.287G>C
ENST00000560467.1:c.768G>C
NM_000527.4:c.1288G>C , LRG_274t1:c.1288G>C	NP_000518.1:p.Val430Leu
NM_001195798.1:c.1288G>C	NP_001182727.1:p.Val430Leu
NM_001195799.1:c.1165G>C	NP_001182728.1:p.Val389Leu
NM_001195800.1:c.784G>C	NP_001182729.1:p.Val262Leu
NM_001195803.1:c.907G>C	NP_001182732.1:p.Val303Leu
XM_011528010.1:c.1288G>C	XP_011526312.1:p.Val430Leu
XM_011528011.1:c.907G>C	XP_011526313.1:p.Val303Leu
XR_244074.2:n.1438G>C
XM_011528010.2:c.1288G>C	XP_011526312.1:p.Val430Leu
XR_001753685.2:n.1405G>C
XR_001753686.2:n.1405G>C
NM_000527.5:c.1288G>C MANE Select	NP_000518.1:p.Val430Leu
NM_001195798.2:c.1288G>C	NP_001182727.1:p.Val430Leu
NM_001195799.2:c.1165G>C	NP_001182728.1:p.Val389Leu
NM_001195800.2:c.784G>C	NP_001182729.1:p.Val262Leu
NM_001195803.2:c.907G>C	NP_001182732.1:p.Val303Leu