Canonical Allele Identifier: CA10585661

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252088
• ClinVar RCV Id: RCV000238232
• dbSNP Id: rs879255057
• MyVariant Identifiers: chr19:g.11230782dupG (hg19) ; chr19:g.11120106dupG (hg38)
• PubMed: PMID:12485531

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120106dup , CM000681.2:g.11120106dup	GRCh38
NC_000019.9:g.11230782dup , CM000681.1:g.11230782dup	GRCh37
NC_000019.8:g.11091782dup	NCBI36
NG_009060.1:g.35726dup , LRG_274:g.35726dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2118dup	ENSP00000252444.6:p.Thr707AspfsTer24
ENST00000559340.2:c.1720dup	ENSP00000453696.2:p.Asp574GlyfsTer?
ENST00000560467.2:c.1740dup	ENSP00000453513.2:p.Thr581AspfsTer24
ENST00000558518.6:c.1860dup MANE Select	ENSP00000454071.1:p.Thr621AspfsTer24
ENST00000252444.9:c.2114dup
ENST00000455727.6:c.1356dup	ENSP00000397829.2:p.Thr453AspfsTer24
ENST00000535915.5:c.1737dup	ENSP00000440520.1:p.Thr580AspfsTer24
ENST00000545707.5:c.1479dup	ENSP00000437639.1:p.Thr494AspfsTer24
ENST00000557933.5:c.1860dup	ENSP00000453557.1:p.Thr621AspfsTer24
ENST00000558013.5:c.1860dup	ENSP00000453346.1:p.Thr621AspfsTer24
ENST00000558518.5:c.1860dup	ENSP00000454071.1:p.Thr621AspfsTer24
ENST00000559340.1:c.441dup
NM_000527.4:c.1860dup , LRG_274t1:c.1860dup	NP_000518.1:p.Thr621AspfsTer24
NM_001195798.1:c.1860dup	NP_001182727.1:p.Thr621AspfsTer24
NM_001195799.1:c.1737dup	NP_001182728.1:p.Thr580AspfsTer24
NM_001195800.1:c.1356dup	NP_001182729.1:p.Thr453AspfsTer24
NM_001195803.1:c.1479dup	NP_001182732.1:p.Thr494AspfsTer24
XM_011528010.1:c.1860dup	XP_011526312.1:p.Thr621AspfsTer24
XM_011528011.1:c.1479dup	XP_011526313.1:p.Thr494AspfsTer24
XR_244074.2:n.1870dup
XM_011528010.2:c.1860dup	XP_011526312.1:p.Thr621AspfsTer24
XR_001753685.2:n.1977dup
XR_001753686.2:n.1837dup
NM_000527.5:c.1860dup MANE Select	NP_000518.1:p.Thr621AspfsTer24
NM_001195798.2:c.1860dup	NP_001182727.1:p.Thr621AspfsTer24
NM_001195799.2:c.1737dup	NP_001182728.1:p.Thr580AspfsTer24
NM_001195800.2:c.1356dup	NP_001182729.1:p.Thr453AspfsTer24
NM_001195803.2:c.1479dup	NP_001182732.1:p.Thr494AspfsTer24