Canonical Allele Identifier: CA10577093

Gene: LDLR

Linked Data

• ClinVar Variation Id: 228357
• ClinVar RCV Id: RCV000216563 ; RCV000844729 ; RCV002229538 ; RCV002305464 ; RCV002390577
• dbSNP Id: rs876657697
• MyVariant Identifiers: chr19:g.11224280dupC (hg19) ; chr19:g.11113604dupC (hg38)
• PubMed: PMID:11139254 ; PMID:11196104 ; PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113604dup , CM000681.2:g.11113604dup	GRCh38
NC_000019.9:g.11224280dup , CM000681.1:g.11224280dup	GRCh37
NC_000019.8:g.11085280dup	NCBI36
NG_009060.1:g.29224dup , LRG_274:g.29224dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1686dup	ENSP00000252444.6:p.Asp563ArgfsTer?
ENST00000559340.2:c.1428dup	ENSP00000453696.2:p.Asp477ArgfsTer?
ENST00000560467.2:c.1308dup	ENSP00000453513.2:p.Asp437ArgfsTer?
ENST00000558518.6:c.1428dup MANE Select	ENSP00000454071.1:p.Asp477ArgfsTer?
ENST00000252444.9:c.1682dup
ENST00000455727.6:c.924dup	ENSP00000397829.2:p.Asp309ArgfsTer?
ENST00000535915.5:c.1305dup	ENSP00000440520.1:p.Asp436ArgfsTer?
ENST00000545707.5:c.1047dup	ENSP00000437639.1:p.Asp350ArgfsTer?
ENST00000557933.5:c.1428dup	ENSP00000453557.1:p.Asp477ArgfsTer?
ENST00000558013.5:c.1428dup	ENSP00000453346.1:p.Asp477ArgfsTer?
ENST00000558518.5:c.1428dup	ENSP00000454071.1:p.Asp477ArgfsTer?
ENST00000559340.1:c.149dup
ENST00000560467.1:c.908dup
NM_000527.4:c.1428dup , LRG_274t1:c.1428dup	NP_000518.1:p.Asp477ArgfsTer?
NM_001195798.1:c.1428dup	NP_001182727.1:p.Asp477ArgfsTer?
NM_001195799.1:c.1305dup	NP_001182728.1:p.Asp436ArgfsTer?
NM_001195800.1:c.924dup	NP_001182729.1:p.Asp309ArgfsTer?
NM_001195803.1:c.1047dup	NP_001182732.1:p.Asp350ArgfsTer?
XM_011528010.1:c.1428dup	XP_011526312.1:p.Asp477ArgfsTer?
XM_011528011.1:c.1047dup	XP_011526313.1:p.Asp350ArgfsTer?
XR_244074.2:n.1578dup
XM_011528010.2:c.1428dup	XP_011526312.1:p.Asp477ArgfsTer?
XR_001753685.2:n.1545dup
XR_001753686.2:n.1545dup
NM_000527.5:c.1428dup MANE Select	NP_000518.1:p.Asp477ArgfsTer?
NM_001195798.2:c.1428dup	NP_001182727.1:p.Asp477ArgfsTer?
NM_001195799.2:c.1305dup	NP_001182728.1:p.Asp436ArgfsTer?
NM_001195800.2:c.924dup	NP_001182729.1:p.Asp309ArgfsTer?
NM_001195803.2:c.1047dup	NP_001182732.1:p.Asp350ArgfsTer?