Canonical Allele Identifier: CA10585117

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251437
• ClinVar RCV Id: RCV000237699 ; RCV000844739 ; RCV001190236 ; RCV002392740
• dbSNP Id: rs879254667
• gnomAD v4: 19-11106631-A-C
• MyVariant Identifiers: chr19:g.11217307A>C (hg19) ; chr19:g.11106631A>C (hg38)
• PubMed: PMID:10978268 ; PMID:11754108 ; PMID:14974088 ; PMID:15200491 ; PMID:16542394 ; PMID:19446849 ; PMID:21925044 ; PMID:22698793 ; PMID:23375686 ; PMID:23510778

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106631A>C , CM000681.2:g.11106631A>C	GRCh38
NC_000019.9:g.11217307A>C , CM000681.1:g.11217307A>C	GRCh37
NC_000019.8:g.11078307A>C	NCBI36
NG_009060.1:g.22251A>C , LRG_274:g.22251A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1019A>C	ENSP00000252444.6:p.Gln340Pro
ENST00000559340.2:c.761A>C	ENSP00000453696.2:p.Gln254Pro
ENST00000560467.2:c.761A>C	ENSP00000453513.2:p.Gln254Pro
ENST00000558518.6:c.761A>C MANE Select	ENSP00000454071.1:p.Gln254Pro
ENST00000252444.9:c.1015A>C
ENST00000455727.6:c.314-761A>C	ENSP00000397829.2:n.314-761A>C
ENST00000535915.5:c.638A>C	ENSP00000440520.1:p.Gln213Pro
ENST00000545707.5:c.380A>C	ENSP00000437639.1:p.Gln127Pro
ENST00000557933.5:c.761A>C	ENSP00000453557.1:p.Gln254Pro
ENST00000558013.5:c.761A>C	ENSP00000453346.1:p.Gln254Pro
ENST00000558518.5:c.761A>C	ENSP00000454071.1:p.Gln254Pro
ENST00000558528.1:n.276A>C
ENST00000560467.1:c.361A>C
NM_000527.4:c.761A>C , LRG_274t1:c.761A>C	NP_000518.1:p.Gln254Pro
NM_001195798.1:c.761A>C	NP_001182727.1:p.Gln254Pro
NM_001195799.1:c.638A>C	NP_001182728.1:p.Gln213Pro
NM_001195800.1:c.314-761A>C	NP_001182729.1:n.314-761A>C
NM_001195803.1:c.380A>C	NP_001182732.1:p.Gln127Pro
XM_011528010.1:c.761A>C	XP_011526312.1:p.Gln254Pro
XM_011528011.1:c.380A>C	XP_011526313.1:p.Gln127Pro
XR_244074.2:n.911A>C
XM_011528010.2:c.761A>C	XP_011526312.1:p.Gln254Pro
XR_001753685.2:n.878A>C
XR_001753686.2:n.878A>C
NM_000527.5:c.761A>C MANE Select	NP_000518.1:p.Gln254Pro
NM_001195798.2:c.761A>C	NP_001182727.1:p.Gln254Pro
NM_001195799.2:c.638A>C	NP_001182728.1:p.Gln213Pro
NM_001195800.2:c.314-761A>C	NP_001182729.1:n.314-761A>C
NM_001195803.2:c.380A>C	NP_001182732.1:p.Gln127Pro