Canonical Allele Identifier: CA10585771

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252217
• ClinVar RCV Id: RCV000238344 ; RCV002418070
• dbSNP Id: rs879255137
• MyVariant Identifiers: chr19:g.11231152C>G (hg19) ; chr19:g.11120476C>G (hg38)
• PubMed: PMID:20809525 ; PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120476C>G , CM000681.2:g.11120476C>G	GRCh38
NC_000019.9:g.11231152C>G , CM000681.1:g.11231152C>G	GRCh37
NC_000019.8:g.11092152C>G	NCBI36
NG_009060.1:g.36096C>G , LRG_274:g.36096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2352C>G	ENSP00000252444.6:p.Cys784Trp
ENST00000559340.2:c.*163C>G	ENSP00000453696.2:n.*163C>G
ENST00000560467.2:c.1974C>G	ENSP00000453513.2:p.Cys658Trp
ENST00000558518.6:c.2094C>G MANE Select	ENSP00000454071.1:p.Cys698Trp
ENST00000252444.9:c.2348C>G
ENST00000455727.6:c.1590C>G	ENSP00000397829.2:p.Cys530Trp
ENST00000535915.5:c.1971C>G	ENSP00000440520.1:p.Cys657Trp
ENST00000545707.5:c.1606+243C>G	ENSP00000437639.1:n.1606+243C>G
ENST00000557933.5:c.2094C>G	ENSP00000453557.1:p.Cys698Trp
ENST00000558013.5:c.2094C>G	ENSP00000453346.1:p.Cys698Trp
ENST00000558518.5:c.2094C>G	ENSP00000454071.1:p.Cys698Trp
NM_000527.4:c.2094C>G , LRG_274t1:c.2094C>G	NP_000518.1:p.Cys698Trp
NM_001195798.1:c.2094C>G	NP_001182727.1:p.Cys698Trp
NM_001195799.1:c.1971C>G	NP_001182728.1:p.Cys657Trp
NM_001195800.1:c.1590C>G	NP_001182729.1:p.Cys530Trp
NM_001195803.1:c.1606+243C>G	NP_001182732.1:n.1606+243C>G
XM_011528010.1:c.2094C>G	XP_011526312.1:p.Cys698Trp
XM_011528011.1:c.1713C>G	XP_011526313.1:p.Cys571Trp
XR_244074.2:n.2104C>G
XM_011528010.2:c.2094C>G	XP_011526312.1:p.Cys698Trp
XR_001753685.2:n.2211C>G
XR_001753686.2:n.2071C>G
NM_000527.5:c.2094C>G MANE Select	NP_000518.1:p.Cys698Trp
NM_001195798.2:c.2094C>G	NP_001182727.1:p.Cys698Trp
NM_001195799.2:c.1971C>G	NP_001182728.1:p.Cys657Trp
NM_001195800.2:c.1590C>G	NP_001182729.1:p.Cys530Trp
NM_001195803.2:c.1606+243C>G	NP_001182732.1:n.1606+243C>G