Canonical Allele Identifier: CA10585659

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252089
• ClinVar RCV Id: RCV002411099 ; RCV003480570
• dbSNP Id: rs875989933
• MyVariant Identifiers: chr19:g.11230782G>A (hg19) ; chr19:g.11120106G>A (hg38)
• PubMed: PMID:20809525 ; PMID:25846081

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2118G>A	ENSP00000252444.6:p.Trp706Ter
ENST00000559340.2:c.1720G>A	ENSP00000453696.2:p.Asp574Asn
ENST00000560467.2:c.1740G>A	ENSP00000453513.2:p.Trp580Ter
ENST00000558518.6:c.1860G>A MANE Select	ENSP00000454071.1:p.Trp620Ter
ENST00000252444.9:c.2114G>A
ENST00000455727.6:c.1356G>A	ENSP00000397829.2:p.Trp452Ter
ENST00000535915.5:c.1737G>A	ENSP00000440520.1:p.Trp579Ter
ENST00000545707.5:c.1479G>A	ENSP00000437639.1:p.Trp493Ter
ENST00000557933.5:c.1860G>A	ENSP00000453557.1:p.Trp620Ter
ENST00000558013.5:c.1860G>A	ENSP00000453346.1:p.Trp620Ter
ENST00000558518.5:c.1860G>A	ENSP00000454071.1:p.Trp620Ter
ENST00000559340.1:c.441G>A
NM_000527.4:c.1860G>A , LRG_274t1:c.1860G>A	NP_000518.1:p.Trp620Ter
NM_001195798.1:c.1860G>A	NP_001182727.1:p.Trp620Ter
NM_001195799.1:c.1737G>A	NP_001182728.1:p.Trp579Ter
NM_001195800.1:c.1356G>A	NP_001182729.1:p.Trp452Ter
NM_001195803.1:c.1479G>A	NP_001182732.1:p.Trp493Ter
XM_011528010.1:c.1860G>A	XP_011526312.1:p.Trp620Ter
XM_011528011.1:c.1479G>A	XP_011526313.1:p.Trp493Ter
XR_244074.2:n.1870G>A
XM_011528010.2:c.1860G>A	XP_011526312.1:p.Trp620Ter
XR_001753685.2:n.1977G>A
XR_001753686.2:n.1837G>A
NM_000527.5:c.1860G>A MANE Select	NP_000518.1:p.Trp620Ter
NM_001195798.2:c.1860G>A	NP_001182727.1:p.Trp620Ter
NM_001195799.2:c.1737G>A	NP_001182728.1:p.Trp579Ter
NM_001195800.2:c.1356G>A	NP_001182729.1:p.Trp452Ter
NM_001195803.2:c.1479G>A	NP_001182732.1:p.Trp493Ter