Canonical Allele Identifier: CA10585710

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252148
• ClinVar RCV Id: RCV000237919
• dbSNP Id: rs879255099
• PubMed: PMID:12052488

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120241dup , CM000681.2:g.11120241dup	GRCh38
NC_000019.9:g.11230917dup , CM000681.1:g.11230917dup	GRCh37
NC_000019.8:g.11091917dup	NCBI36
NG_009060.1:g.35861dup , LRG_274:g.35861dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2245+8dup	ENSP00000252444.6:n.2245+8dup
ENST00000559340.2:c.*56+8dup	ENSP00000453696.2:n.*56+8dup
ENST00000560467.2:c.1867+8dup	ENSP00000453513.2:n.1867+8dup
ENST00000558518.6:c.1987+8dup MANE Select	ENSP00000454071.1:n.1987+8dup
ENST00000252444.9:c.2241+8dup
ENST00000455727.6:c.1483+8dup	ENSP00000397829.2:n.1483+8dup
ENST00000535915.5:c.1864+8dup	ENSP00000440520.1:n.1864+8dup
ENST00000545707.5:c.1606+8dup	ENSP00000437639.1:n.1606+8dup
ENST00000557933.5:c.1987+8dup	ENSP00000453557.1:n.1987+8dup
ENST00000558013.5:c.1987+8dup	ENSP00000453346.1:n.1987+8dup
ENST00000558518.5:c.1987+8dup	ENSP00000454071.1:n.1987+8dup
ENST00000559340.1:c.568+8dup
NM_000527.4:c.1987+8dup , LRG_274t1:c.1987+8dup	NP_000518.1:n.1987+8dup
NM_001195798.1:c.1987+8dup	NP_001182727.1:n.1987+8dup
NM_001195799.1:c.1864+8dup	NP_001182728.1:n.1864+8dup
NM_001195800.1:c.1483+8dup	NP_001182729.1:n.1483+8dup
NM_001195803.1:c.1606+8dup	NP_001182732.1:n.1606+8dup
XM_011528010.1:c.1987+8dup	XP_011526312.1:n.1987+8dup
XM_011528011.1:c.1606+8dup	XP_011526313.1:n.1606+8dup
XR_244074.2:n.1997+8dup
XM_011528010.2:c.1987+8dup	XP_011526312.1:n.1987+8dup
XR_001753685.2:n.2104+8dup
XR_001753686.2:n.1964+8dup
NM_000527.5:c.1987+8dup MANE Select	NP_000518.1:n.1987+8dup
NM_001195798.2:c.1987+8dup	NP_001182727.1:n.1987+8dup
NM_001195799.2:c.1864+8dup	NP_001182728.1:n.1864+8dup
NM_001195800.2:c.1483+8dup	NP_001182729.1:n.1483+8dup
NM_001195803.2:c.1606+8dup	NP_001182732.1:n.1606+8dup