Canonical Allele Identifier: CA10585641

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252061
• ClinVar RCV Id: RCV000238571
• dbSNP Id: rs879255043
• MyVariant Identifiers: chr19:g.11227669T>A (hg19) ; chr19:g.11116993T>A (hg38)
• PubMed: PMID:17765246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116993T>A , CM000681.2:g.11116993T>A	GRCh38
NC_000019.9:g.11227669T>A , CM000681.1:g.11227669T>A	GRCh37
NC_000019.8:g.11088669T>A	NCBI36
NG_009060.1:g.32613T>A , LRG_274:g.32613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2098T>A	ENSP00000252444.6:p.Phe700Ile
ENST00000559340.2:c.1705+781T>A	ENSP00000453696.2:n.1705+781T>A
ENST00000560467.2:c.1720T>A	ENSP00000453513.2:p.Phe574Ile
ENST00000558518.6:c.1840T>A MANE Select	ENSP00000454071.1:p.Phe614Ile
ENST00000252444.9:c.2094T>A
ENST00000455727.6:c.1336T>A	ENSP00000397829.2:p.Phe446Ile
ENST00000535915.5:c.1717T>A	ENSP00000440520.1:p.Phe573Ile
ENST00000545707.5:c.1459T>A	ENSP00000437639.1:p.Phe487Ile
ENST00000557933.5:c.1840T>A	ENSP00000453557.1:p.Phe614Ile
ENST00000558013.5:c.1840T>A	ENSP00000453346.1:p.Phe614Ile
ENST00000558518.5:c.1840T>A	ENSP00000454071.1:p.Phe614Ile
ENST00000559340.1:c.426+781T>A
NM_000527.4:c.1840T>A , LRG_274t1:c.1840T>A	NP_000518.1:p.Phe614Ile
NM_001195798.1:c.1840T>A	NP_001182727.1:p.Phe614Ile
NM_001195799.1:c.1717T>A	NP_001182728.1:p.Phe573Ile
NM_001195800.1:c.1336T>A	NP_001182729.1:p.Phe446Ile
NM_001195803.1:c.1459T>A	NP_001182732.1:p.Phe487Ile
XM_011528010.1:c.1840T>A	XP_011526312.1:p.Phe614Ile
XM_011528011.1:c.1459T>A	XP_011526313.1:p.Phe487Ile
XR_244074.2:n.1855+781T>A
XM_011528010.2:c.1840T>A	XP_011526312.1:p.Phe614Ile
XR_001753685.2:n.1957T>A
XR_001753686.2:n.1822+781T>A
NM_000527.5:c.1840T>A MANE Select	NP_000518.1:p.Phe614Ile
NM_001195798.2:c.1840T>A	NP_001182727.1:p.Phe614Ile
NM_001195799.2:c.1717T>A	NP_001182728.1:p.Phe573Ile
NM_001195800.2:c.1336T>A	NP_001182729.1:p.Phe446Ile
NM_001195803.2:c.1459T>A	NP_001182732.1:p.Phe487Ile