Canonical Allele Identifier: CA10585336

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251696
• ClinVar RCV Id: RCV000238574
• dbSNP Id: rs879254813
• MyVariant Identifiers: chr19:g.11222303dupT (hg19) ; chr19:g.11111627dupT (hg38)
• PubMed: PMID:20538126

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111627dup , CM000681.2:g.11111627dup	GRCh38
NC_000019.9:g.11222303dup , CM000681.1:g.11222303dup	GRCh37
NC_000019.8:g.11083303dup	NCBI36
NG_009060.1:g.27247dup , LRG_274:g.27247dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1432dup	ENSP00000252444.6:p.Cys478LeufsTer?
ENST00000559340.2:c.1174dup	ENSP00000453696.2:p.Cys392LeufsTer?
ENST00000560467.2:c.1054dup	ENSP00000453513.2:p.Cys352LeufsTer?
ENST00000558518.6:c.1174dup MANE Select	ENSP00000454071.1:p.Cys392LeufsTer?
ENST00000252444.9:c.1428dup
ENST00000455727.6:c.670dup	ENSP00000397829.2:p.Cys224LeufsTer?
ENST00000535915.5:c.1051dup	ENSP00000440520.1:p.Cys351LeufsTer?
ENST00000545707.5:c.793dup	ENSP00000437639.1:p.Cys265LeufsTer?
ENST00000557933.5:c.1174dup	ENSP00000453557.1:p.Cys392LeufsTer?
ENST00000558013.5:c.1174dup	ENSP00000453346.1:p.Cys392LeufsTer?
ENST00000558518.5:c.1174dup	ENSP00000454071.1:p.Cys392LeufsTer?
ENST00000560173.1:n.173dup
ENST00000560467.1:c.654dup
NM_000527.4:c.1174dup , LRG_274t1:c.1174dup	NP_000518.1:p.Cys392LeufsTer?
NM_001195798.1:c.1174dup	NP_001182727.1:p.Cys392LeufsTer?
NM_001195799.1:c.1051dup	NP_001182728.1:p.Cys351LeufsTer?
NM_001195800.1:c.670dup	NP_001182729.1:p.Cys224LeufsTer?
NM_001195803.1:c.793dup	NP_001182732.1:p.Cys265LeufsTer?
XM_011528010.1:c.1174dup	XP_011526312.1:p.Cys392LeufsTer?
XM_011528011.1:c.793dup	XP_011526313.1:p.Cys265LeufsTer?
XR_244074.2:n.1324dup
XM_011528010.2:c.1174dup	XP_011526312.1:p.Cys392LeufsTer?
XR_001753685.2:n.1291dup
XR_001753686.2:n.1291dup
NM_000527.5:c.1174dup MANE Select	NP_000518.1:p.Cys392LeufsTer?
NM_001195798.2:c.1174dup	NP_001182727.1:p.Cys392LeufsTer?
NM_001195799.2:c.1051dup	NP_001182728.1:p.Cys351LeufsTer?
NM_001195800.2:c.670dup	NP_001182729.1:p.Cys224LeufsTer?
NM_001195803.2:c.793dup	NP_001182732.1:p.Cys265LeufsTer?