Canonical Allele Identifier: CA10585219

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251554
• ClinVar RCV Id: RCV001034626 ; RCV003477851
• dbSNP Id: rs112366278
• MyVariant Identifiers: chr19:g.11221326A>G (hg19) ; chr19:g.11110650A>G (hg38)
• PubMed: PMID:10782930 ; PMID:12436241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110650A>G , CM000681.2:g.11110650A>G	GRCh38
NC_000019.9:g.11221326A>G , CM000681.1:g.11221326A>G	GRCh37
NC_000019.8:g.11082326A>G	NCBI36
NG_009060.1:g.26270A>G , LRG_274:g.26270A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1199-2A>G	ENSP00000252444.6:n.1199-2A>G
ENST00000559340.2:c.941-2A>G	ENSP00000453696.2:n.941-2A>G
ENST00000560467.2:c.941-864A>G	ENSP00000453513.2:n.941-864A>G
ENST00000558518.6:c.941-2A>G MANE Select	ENSP00000454071.1:n.941-2A>G
ENST00000252444.9:c.1195-2A>G
ENST00000455727.6:c.437-2A>G	ENSP00000397829.2:n.437-2A>G
ENST00000535915.5:c.818-2A>G	ENSP00000440520.1:n.818-2A>G
ENST00000545707.5:c.560-2A>G	ENSP00000437639.1:n.560-2A>G
ENST00000557933.5:c.941-2A>G	ENSP00000453557.1:n.941-2A>G
ENST00000558013.5:c.941-2A>G	ENSP00000453346.1:n.941-2A>G
ENST00000558518.5:c.941-2A>G	ENSP00000454071.1:n.941-2A>G
ENST00000560467.1:c.541-864A>G
NM_000527.4:c.941-2A>G , LRG_274t1:c.941-2A>G	NP_000518.1:n.941-2A>G
NM_001195798.1:c.941-2A>G	NP_001182727.1:n.941-2A>G
NM_001195799.1:c.818-2A>G	NP_001182728.1:n.818-2A>G
NM_001195800.1:c.437-2A>G	NP_001182729.1:n.437-2A>G
NM_001195803.1:c.560-2A>G	NP_001182732.1:n.560-2A>G
XM_011528010.1:c.941-2A>G	XP_011526312.1:n.941-2A>G
XM_011528011.1:c.560-2A>G	XP_011526313.1:n.560-2A>G
XR_244074.2:n.1091-2A>G
XM_011528010.2:c.941-2A>G	XP_011526312.1:n.941-2A>G
XR_001753685.2:n.1058-2A>G
XR_001753686.2:n.1058-2A>G
NM_000527.5:c.941-2A>G MANE Select	NP_000518.1:n.941-2A>G
NM_001195798.2:c.941-2A>G	NP_001182727.1:n.941-2A>G
NM_001195799.2:c.818-2A>G	NP_001182728.1:n.818-2A>G
NM_001195800.2:c.437-2A>G	NP_001182729.1:n.437-2A>G
NM_001195803.2:c.560-2A>G	NP_001182732.1:n.560-2A>G