Canonical Allele Identifier: CA10585300

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251659
• ClinVar RCV Id: RCV000237505
• dbSNP Id: rs879254788
• MyVariant Identifiers: chr19:g.11222220G>T (hg19) ; chr19:g.11111544G>T (hg38)
• PubMed: PMID:11196104

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111544G>T , CM000681.2:g.11111544G>T	GRCh38
NC_000019.9:g.11222220G>T , CM000681.1:g.11222220G>T	GRCh37
NC_000019.8:g.11083220G>T	NCBI36
NG_009060.1:g.27164G>T , LRG_274:g.27164G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1349G>T	ENSP00000252444.6:p.Cys450Phe
ENST00000559340.2:c.1091G>T	ENSP00000453696.2:p.Cys364Phe
ENST00000560467.2:c.971G>T	ENSP00000453513.2:p.Cys324Phe
ENST00000558518.6:c.1091G>T MANE Select	ENSP00000454071.1:p.Cys364Phe
ENST00000252444.9:c.1345G>T
ENST00000455727.6:c.587G>T	ENSP00000397829.2:p.Cys196Phe
ENST00000535915.5:c.968G>T	ENSP00000440520.1:p.Cys323Phe
ENST00000545707.5:c.710G>T	ENSP00000437639.1:p.Cys237Phe
ENST00000557933.5:c.1091G>T	ENSP00000453557.1:p.Cys364Phe
ENST00000558013.5:c.1091G>T	ENSP00000453346.1:p.Cys364Phe
ENST00000558518.5:c.1091G>T	ENSP00000454071.1:p.Cys364Phe
ENST00000560173.1:n.90G>T
ENST00000560467.1:c.571G>T
NM_000527.4:c.1091G>T , LRG_274t1:c.1091G>T	NP_000518.1:p.Cys364Phe
NM_001195798.1:c.1091G>T	NP_001182727.1:p.Cys364Phe
NM_001195799.1:c.968G>T	NP_001182728.1:p.Cys323Phe
NM_001195800.1:c.587G>T	NP_001182729.1:p.Cys196Phe
NM_001195803.1:c.710G>T	NP_001182732.1:p.Cys237Phe
XM_011528010.1:c.1091G>T	XP_011526312.1:p.Cys364Phe
XM_011528011.1:c.710G>T	XP_011526313.1:p.Cys237Phe
XR_244074.2:n.1241G>T
XM_011528010.2:c.1091G>T	XP_011526312.1:p.Cys364Phe
XR_001753685.2:n.1208G>T
XR_001753686.2:n.1208G>T
NM_000527.5:c.1091G>T MANE Select	NP_000518.1:p.Cys364Phe
NM_001195798.2:c.1091G>T	NP_001182727.1:p.Cys364Phe
NM_001195799.2:c.968G>T	NP_001182728.1:p.Cys323Phe
NM_001195800.2:c.587G>T	NP_001182729.1:p.Cys196Phe
NM_001195803.2:c.710G>T	NP_001182732.1:p.Cys237Phe