Canonical Allele Identifier: CA10585552

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251961
• ClinVar RCV Id: RCV000237480
• dbSNP Id: rs879254977
• MyVariant Identifiers: chr19:g.11226845_11226852dupGCTGGTGA (hg19) ; chr19:g.11116169_11116176dupGCTGGTGA (hg38)
• PubMed: PMID:11754108 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116169_11116176dup , CM000681.2:g.11116169_11116176dup	GRCh38
NC_000019.9:g.11226845_11226852dup , CM000681.1:g.11226845_11226852dup	GRCh37
NC_000019.8:g.11087845_11087852dup	NCBI36
NG_009060.1:g.31789_31796dup , LRG_274:g.31789_31796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1920_1927dup	ENSP00000252444.6:p.Thr643SerfsTer3
ENST00000559340.2:c.1662_1669dup	ENSP00000453696.2:p.Thr557SerfsTer3
ENST00000560467.2:c.1542_1549dup	ENSP00000453513.2:p.Thr517SerfsTer3
ENST00000558518.6:c.1662_1669dup MANE Select	ENSP00000454071.1:p.Thr557SerfsTer3
ENST00000252444.9:c.1916_1923dup
ENST00000455727.6:c.1158_1165dup	ENSP00000397829.2:p.Thr389SerfsTer3
ENST00000535915.5:c.1539_1546dup	ENSP00000440520.1:p.Thr516SerfsTer3
ENST00000545707.5:c.1281_1288dup	ENSP00000437639.1:p.Thr430SerfsTer3
ENST00000557933.5:c.1662_1669dup	ENSP00000453557.1:p.Thr557SerfsTer3
ENST00000558013.5:c.1662_1669dup	ENSP00000453346.1:p.Thr557SerfsTer3
ENST00000558518.5:c.1662_1669dup	ENSP00000454071.1:p.Thr557SerfsTer3
ENST00000559340.1:c.383_390dup
NM_000527.4:c.1662_1669dup , LRG_274t1:c.1662_1669dup	NP_000518.1:p.Thr557SerfsTer3
NM_001195798.1:c.1662_1669dup	NP_001182727.1:p.Thr557SerfsTer3
NM_001195799.1:c.1539_1546dup	NP_001182728.1:p.Thr516SerfsTer3
NM_001195800.1:c.1158_1165dup	NP_001182729.1:p.Thr389SerfsTer3
NM_001195803.1:c.1281_1288dup	NP_001182732.1:p.Thr430SerfsTer3
XM_011528010.1:c.1662_1669dup	XP_011526312.1:p.Thr557SerfsTer3
XM_011528011.1:c.1281_1288dup	XP_011526313.1:p.Thr430SerfsTer3
XR_244074.2:n.1812_1819dup
XM_011528010.2:c.1662_1669dup	XP_011526312.1:p.Thr557SerfsTer3
XR_001753685.2:n.1779_1786dup
XR_001753686.2:n.1779_1786dup
NM_000527.5:c.1662_1669dup MANE Select	NP_000518.1:p.Thr557SerfsTer3
NM_001195798.2:c.1662_1669dup	NP_001182727.1:p.Thr557SerfsTer3
NM_001195799.2:c.1539_1546dup	NP_001182728.1:p.Thr516SerfsTer3
NM_001195800.2:c.1158_1165dup	NP_001182729.1:p.Thr389SerfsTer3
NM_001195803.2:c.1281_1288dup	NP_001182732.1:p.Thr430SerfsTer3