Canonical Allele Identifier: CA10585284

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251641
• ClinVar RCV Id: RCV000238505
• dbSNP Id: rs879254775
• MyVariant Identifiers: chr19:g.11222191dupT (hg19) ; chr19:g.11111515dupT (hg38)
• PubMed: PMID:12417285

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111515dup , CM000681.2:g.11111515dup	GRCh38
NC_000019.9:g.11222191dup , CM000681.1:g.11222191dup	GRCh37
NC_000019.8:g.11083191dup	NCBI36
NG_009060.1:g.27135dup , LRG_274:g.27135dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1320dup	ENSP00000252444.6:p.Ile441TyrfsTer3
ENST00000559340.2:c.1062dup	ENSP00000453696.2:p.Ile355TyrfsTer3
ENST00000560467.2:c.942dup	ENSP00000453513.2:p.Ile315TyrfsTer3
ENST00000558518.6:c.1062dup MANE Select	ENSP00000454071.1:p.Ile355TyrfsTer3
ENST00000252444.9:c.1316dup
ENST00000455727.6:c.558dup	ENSP00000397829.2:p.Ile187TyrfsTer3
ENST00000535915.5:c.939dup	ENSP00000440520.1:p.Ile314TyrfsTer3
ENST00000545707.5:c.681dup	ENSP00000437639.1:p.Ile228TyrfsTer3
ENST00000557933.5:c.1062dup	ENSP00000453557.1:p.Ile355TyrfsTer3
ENST00000558013.5:c.1062dup	ENSP00000453346.1:p.Ile355TyrfsTer3
ENST00000558518.5:c.1062dup	ENSP00000454071.1:p.Ile355TyrfsTer3
ENST00000560173.1:n.61dup
ENST00000560467.1:c.542dup
NM_000527.4:c.1062dup , LRG_274t1:c.1062dup	NP_000518.1:p.Ile355TyrfsTer3
NM_001195798.1:c.1062dup	NP_001182727.1:p.Ile355TyrfsTer3
NM_001195799.1:c.939dup	NP_001182728.1:p.Ile314TyrfsTer3
NM_001195800.1:c.558dup	NP_001182729.1:p.Ile187TyrfsTer3
NM_001195803.1:c.681dup	NP_001182732.1:p.Ile228TyrfsTer3
XM_011528010.1:c.1062dup	XP_011526312.1:p.Ile355TyrfsTer3
XM_011528011.1:c.681dup	XP_011526313.1:p.Ile228TyrfsTer3
XR_244074.2:n.1212dup
XM_011528010.2:c.1062dup	XP_011526312.1:p.Ile355TyrfsTer3
XR_001753685.2:n.1179dup
XR_001753686.2:n.1179dup
NM_000527.5:c.1062dup MANE Select	NP_000518.1:p.Ile355TyrfsTer3
NM_001195798.2:c.1062dup	NP_001182727.1:p.Ile355TyrfsTer3
NM_001195799.2:c.939dup	NP_001182728.1:p.Ile314TyrfsTer3
NM_001195800.2:c.558dup	NP_001182729.1:p.Ile187TyrfsTer3
NM_001195803.2:c.681dup	NP_001182732.1:p.Ile228TyrfsTer3