Canonical Allele Identifier: CA10576303

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226353
• ClinVar RCV Id: RCV000211588
• dbSNP Id: rs28942078
• MyVariant Identifiers: chr19:g.11224052G>C (hg19) ; chr19:g.11113376G>C (hg38)
• PubMed: PMID:17765246 ; PMID:23021490

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113376G>C , CM000681.2:g.11113376G>C	GRCh38
NC_000019.9:g.11224052G>C , CM000681.1:g.11224052G>C	GRCh37
NC_000019.8:g.11085052G>C	NCBI36
NG_009060.1:g.28996G>C , LRG_274:g.28996G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1543G>C	ENSP00000252444.6:p.Val515Leu
ENST00000559340.2:c.1285G>C	ENSP00000453696.2:p.Val429Leu
ENST00000560467.2:c.1165G>C	ENSP00000453513.2:p.Val389Leu
ENST00000558518.6:c.1285G>C MANE Select	ENSP00000454071.1:p.Val429Leu
ENST00000252444.9:c.1539G>C
ENST00000455727.6:c.781G>C	ENSP00000397829.2:p.Val261Leu
ENST00000535915.5:c.1162G>C	ENSP00000440520.1:p.Val388Leu
ENST00000545707.5:c.904G>C	ENSP00000437639.1:p.Val302Leu
ENST00000557933.5:c.1285G>C	ENSP00000453557.1:p.Val429Leu
ENST00000558013.5:c.1285G>C	ENSP00000453346.1:p.Val429Leu
ENST00000558518.5:c.1285G>C	ENSP00000454071.1:p.Val429Leu
ENST00000559340.1:c.6G>C
ENST00000560173.1:n.284G>C
ENST00000560467.1:c.765G>C
NM_000527.4:c.1285G>C , LRG_274t1:c.1285G>C	NP_000518.1:p.Val429Leu
NM_001195798.1:c.1285G>C	NP_001182727.1:p.Val429Leu
NM_001195799.1:c.1162G>C	NP_001182728.1:p.Val388Leu
NM_001195800.1:c.781G>C	NP_001182729.1:p.Val261Leu
NM_001195803.1:c.904G>C	NP_001182732.1:p.Val302Leu
XM_011528010.1:c.1285G>C	XP_011526312.1:p.Val429Leu
XM_011528011.1:c.904G>C	XP_011526313.1:p.Val302Leu
XR_244074.2:n.1435G>C
XM_011528010.2:c.1285G>C	XP_011526312.1:p.Val429Leu
XR_001753685.2:n.1402G>C
XR_001753686.2:n.1402G>C
NM_000527.5:c.1285G>C MANE Select	NP_000518.1:p.Val429Leu
NM_001195798.2:c.1285G>C	NP_001182727.1:p.Val429Leu
NM_001195799.2:c.1162G>C	NP_001182728.1:p.Val388Leu
NM_001195800.2:c.781G>C	NP_001182729.1:p.Val261Leu
NM_001195803.2:c.904G>C	NP_001182732.1:p.Val302Leu