Canonical Allele Identifier: CA10585660

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252090
• ClinVar RCV Id: RCV000237698
• dbSNP Id: rs875989933
• MyVariant Identifiers: chr19:g.11230782G>C (hg19) ; chr19:g.11120106G>C (hg38)
• PubMed: PMID:11313767

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2118G>C	ENSP00000252444.6:p.Trp706Cys
ENST00000559340.2:c.1720G>C	ENSP00000453696.2:p.Asp574His
ENST00000560467.2:c.1740G>C	ENSP00000453513.2:p.Trp580Cys
ENST00000558518.6:c.1860G>C MANE Select	ENSP00000454071.1:p.Trp620Cys
ENST00000252444.9:c.2114G>C
ENST00000455727.6:c.1356G>C	ENSP00000397829.2:p.Trp452Cys
ENST00000535915.5:c.1737G>C	ENSP00000440520.1:p.Trp579Cys
ENST00000545707.5:c.1479G>C	ENSP00000437639.1:p.Trp493Cys
ENST00000557933.5:c.1860G>C	ENSP00000453557.1:p.Trp620Cys
ENST00000558013.5:c.1860G>C	ENSP00000453346.1:p.Trp620Cys
ENST00000558518.5:c.1860G>C	ENSP00000454071.1:p.Trp620Cys
ENST00000559340.1:c.441G>C
NM_000527.4:c.1860G>C , LRG_274t1:c.1860G>C	NP_000518.1:p.Trp620Cys
NM_001195798.1:c.1860G>C	NP_001182727.1:p.Trp620Cys
NM_001195799.1:c.1737G>C	NP_001182728.1:p.Trp579Cys
NM_001195800.1:c.1356G>C	NP_001182729.1:p.Trp452Cys
NM_001195803.1:c.1479G>C	NP_001182732.1:p.Trp493Cys
XM_011528010.1:c.1860G>C	XP_011526312.1:p.Trp620Cys
XM_011528011.1:c.1479G>C	XP_011526313.1:p.Trp493Cys
XR_244074.2:n.1870G>C
XM_011528010.2:c.1860G>C	XP_011526312.1:p.Trp620Cys
XR_001753685.2:n.1977G>C
XR_001753686.2:n.1837G>C
NM_000527.5:c.1860G>C MANE Select	NP_000518.1:p.Trp620Cys
NM_001195798.2:c.1860G>C	NP_001182727.1:p.Trp620Cys
NM_001195799.2:c.1737G>C	NP_001182728.1:p.Trp579Cys
NM_001195800.2:c.1356G>C	NP_001182729.1:p.Trp452Cys
NM_001195803.2:c.1479G>C	NP_001182732.1:p.Trp493Cys