Canonical Allele Identifier: CA10585428

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251815
• ClinVar RCV Id: RCV000238577
• dbSNP Id: rs879254882
• MyVariant Identifiers: chr19:g.11224217del (hg19) ; chr19:g.11113541del (hg38)
• PubMed: PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113541del , CM000681.2:g.11113541del	GRCh38
NC_000019.9:g.11224217del , CM000681.1:g.11224217del	GRCh37
NC_000019.8:g.11085217del	NCBI36
NG_009060.1:g.29161del , LRG_274:g.29161del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1623del	ENSP00000252444.6:p.Gln541HisfsTer?
ENST00000559340.2:c.1365del	ENSP00000453696.2:p.Gln455HisfsTer?
ENST00000560467.2:c.1245del	ENSP00000453513.2:p.Gln415HisfsTer?
ENST00000558518.6:c.1365del MANE Select	ENSP00000454071.1:p.Gln455HisfsTer?
ENST00000252444.9:c.1619del
ENST00000455727.6:c.861del	ENSP00000397829.2:p.Gln287HisfsTer?
ENST00000535915.5:c.1242del	ENSP00000440520.1:p.Gln414HisfsTer?
ENST00000545707.5:c.984del	ENSP00000437639.1:p.Gln328HisfsTer?
ENST00000557933.5:c.1365del	ENSP00000453557.1:p.Gln455HisfsTer?
ENST00000558013.5:c.1365del	ENSP00000453346.1:p.Gln455HisfsTer?
ENST00000558518.5:c.1365del	ENSP00000454071.1:p.Gln455HisfsTer?
ENST00000559340.1:c.86del
ENST00000560467.1:c.845del
NM_000527.4:c.1365del , LRG_274t1:c.1365del	NP_000518.1:p.Gln455HisfsTer?
NM_001195798.1:c.1365del	NP_001182727.1:p.Gln455HisfsTer?
NM_001195799.1:c.1242del	NP_001182728.1:p.Gln414HisfsTer?
NM_001195800.1:c.861del	NP_001182729.1:p.Gln287HisfsTer?
NM_001195803.1:c.984del	NP_001182732.1:p.Gln328HisfsTer?
XM_011528010.1:c.1365del	XP_011526312.1:p.Gln455HisfsTer?
XM_011528011.1:c.984del	XP_011526313.1:p.Gln328HisfsTer?
XR_244074.2:n.1515del
XM_011528010.2:c.1365del	XP_011526312.1:p.Gln455HisfsTer?
XR_001753685.2:n.1482del
XR_001753686.2:n.1482del
NM_000527.5:c.1365del MANE Select	NP_000518.1:p.Gln455HisfsTer?
NM_001195798.2:c.1365del	NP_001182727.1:p.Gln455HisfsTer?
NM_001195799.2:c.1242del	NP_001182728.1:p.Gln414HisfsTer?
NM_001195800.2:c.861del	NP_001182729.1:p.Gln287HisfsTer?
NM_001195803.2:c.984del	NP_001182732.1:p.Gln328HisfsTer?