Canonical Allele Identifier: CA10584968

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251277
• ClinVar RCV Id: RCV000238354 ; RCV000478384 ; RCV000791359 ; RCV002338788
• dbSNP Id: rs769318035
• gnomAD v2: 19-11216101-C-G
• gnomAD v4: 19-11105425-C-G
• MyVariant Identifiers: chr19:g.11216101C>G (hg19) ; chr19:g.11105425C>G (hg38)
• PubMed: PMID:9452094 ; PMID:10090484 ; PMID:11810272 ; PMID:26343872 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105425C>G , CM000681.2:g.11105425C>G	GRCh38
NC_000019.9:g.11216101C>G , CM000681.1:g.11216101C>G	GRCh37
NC_000019.8:g.11077101C>G	NCBI36
NG_009060.1:g.21045C>G , LRG_274:g.21045C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.777C>G	ENSP00000252444.6:p.Cys259Trp
ENST00000559340.2:c.519C>G	ENSP00000453696.2:p.Cys173Trp
ENST00000560467.2:c.519C>G	ENSP00000453513.2:p.Cys173Trp
ENST00000558518.6:c.519C>G MANE Select	ENSP00000454071.1:p.Cys173Trp
ENST00000252444.9:c.773C>G
ENST00000455727.6:c.314-1967C>G	ENSP00000397829.2:n.314-1967C>G
ENST00000535915.5:c.396C>G	ENSP00000440520.1:p.Cys132Trp
ENST00000545707.5:c.314-1140C>G	ENSP00000437639.1:n.314-1140C>G
ENST00000557933.5:c.519C>G	ENSP00000453557.1:p.Cys173Trp
ENST00000558013.5:c.519C>G	ENSP00000453346.1:p.Cys173Trp
ENST00000558518.5:c.519C>G	ENSP00000454071.1:p.Cys173Trp
ENST00000560467.1:c.119C>G
NM_000527.4:c.519C>G , LRG_274t1:c.519C>G	NP_000518.1:p.Cys173Trp
NM_001195798.1:c.519C>G	NP_001182727.1:p.Cys173Trp
NM_001195799.1:c.396C>G	NP_001182728.1:p.Cys132Trp
NM_001195800.1:c.314-1967C>G	NP_001182729.1:n.314-1967C>G
NM_001195803.1:c.314-1140C>G	NP_001182732.1:n.314-1140C>G
XM_011528010.1:c.519C>G	XP_011526312.1:p.Cys173Trp
XM_011528011.1:c.314-1140C>G	XP_011526313.1:n.314-1140C>G
XR_244074.2:n.669C>G
XM_011528010.2:c.519C>G	XP_011526312.1:p.Cys173Trp
XR_001753685.2:n.636C>G
XR_001753686.2:n.636C>G
NM_000527.5:c.519C>G MANE Select	NP_000518.1:p.Cys173Trp
NM_001195798.2:c.519C>G	NP_001182727.1:p.Cys173Trp
NM_001195799.2:c.396C>G	NP_001182728.1:p.Cys132Trp
NM_001195800.2:c.314-1967C>G	NP_001182729.1:n.314-1967C>G
NM_001195803.2:c.314-1140C>G	NP_001182732.1:n.314-1140C>G