Canonical Allele Identifier: CA10576323

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226376
• ClinVar RCV Id: RCV000211660 ; RCV001188071
• dbSNP Id: rs875989933
• gnomAD v4: 19-11120106-G-T
• MyVariant Identifiers: chr19:g.11230782G>T (hg19) ; chr19:g.11120106G>T (hg38)
• PubMed: PMID:17539906

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2118G>T	ENSP00000252444.6:p.Trp706Cys
ENST00000559340.2:c.1720G>T	ENSP00000453696.2:p.Asp574Tyr
ENST00000560467.2:c.1740G>T	ENSP00000453513.2:p.Trp580Cys
ENST00000558518.6:c.1860G>T MANE Select	ENSP00000454071.1:p.Trp620Cys
ENST00000252444.9:c.2114G>T
ENST00000455727.6:c.1356G>T	ENSP00000397829.2:p.Trp452Cys
ENST00000535915.5:c.1737G>T	ENSP00000440520.1:p.Trp579Cys
ENST00000545707.5:c.1479G>T	ENSP00000437639.1:p.Trp493Cys
ENST00000557933.5:c.1860G>T	ENSP00000453557.1:p.Trp620Cys
ENST00000558013.5:c.1860G>T	ENSP00000453346.1:p.Trp620Cys
ENST00000558518.5:c.1860G>T	ENSP00000454071.1:p.Trp620Cys
ENST00000559340.1:c.441G>T
NM_000527.4:c.1860G>T , LRG_274t1:c.1860G>T	NP_000518.1:p.Trp620Cys
NM_001195798.1:c.1860G>T	NP_001182727.1:p.Trp620Cys
NM_001195799.1:c.1737G>T	NP_001182728.1:p.Trp579Cys
NM_001195800.1:c.1356G>T	NP_001182729.1:p.Trp452Cys
NM_001195803.1:c.1479G>T	NP_001182732.1:p.Trp493Cys
XM_011528010.1:c.1860G>T	XP_011526312.1:p.Trp620Cys
XM_011528011.1:c.1479G>T	XP_011526313.1:p.Trp493Cys
XR_244074.2:n.1870G>T
XM_011528010.2:c.1860G>T	XP_011526312.1:p.Trp620Cys
XR_001753685.2:n.1977G>T
XR_001753686.2:n.1837G>T
NM_000527.5:c.1860G>T MANE Select	NP_000518.1:p.Trp620Cys
NM_001195798.2:c.1860G>T	NP_001182727.1:p.Trp620Cys
NM_001195799.2:c.1737G>T	NP_001182728.1:p.Trp579Cys
NM_001195800.2:c.1356G>T	NP_001182729.1:p.Trp452Cys
NM_001195803.2:c.1479G>T	NP_001182732.1:p.Trp493Cys