Canonical Allele Identifier: CA10585762

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252208
• ClinVar RCV Id: RCV000238052
• dbSNP Id: rs879255132
• MyVariant Identifiers: chr19:g.11231138T>G (hg19) ; chr19:g.11120462T>G (hg38)
• PubMed: PMID:19837725

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120462T>G , CM000681.2:g.11120462T>G	GRCh38
NC_000019.9:g.11231138T>G , CM000681.1:g.11231138T>G	GRCh37
NC_000019.8:g.11092138T>G	NCBI36
NG_009060.1:g.36082T>G , LRG_274:g.36082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2338T>G	ENSP00000252444.6:p.Phe780Val
ENST00000559340.2:c.*149T>G	ENSP00000453696.2:n.*149T>G
ENST00000560467.2:c.1960T>G	ENSP00000453513.2:p.Phe654Val
ENST00000558518.6:c.2080T>G MANE Select	ENSP00000454071.1:p.Phe694Val
ENST00000252444.9:c.2334T>G
ENST00000455727.6:c.1576T>G	ENSP00000397829.2:p.Phe526Val
ENST00000535915.5:c.1957T>G	ENSP00000440520.1:p.Phe653Val
ENST00000545707.5:c.1606+229T>G	ENSP00000437639.1:n.1606+229T>G
ENST00000557933.5:c.2080T>G	ENSP00000453557.1:p.Phe694Val
ENST00000558013.5:c.2080T>G	ENSP00000453346.1:p.Phe694Val
ENST00000558518.5:c.2080T>G	ENSP00000454071.1:p.Phe694Val
NM_000527.4:c.2080T>G , LRG_274t1:c.2080T>G	NP_000518.1:p.Phe694Val
NM_001195798.1:c.2080T>G	NP_001182727.1:p.Phe694Val
NM_001195799.1:c.1957T>G	NP_001182728.1:p.Phe653Val
NM_001195800.1:c.1576T>G	NP_001182729.1:p.Phe526Val
NM_001195803.1:c.1606+229T>G	NP_001182732.1:n.1606+229T>G
XM_011528010.1:c.2080T>G	XP_011526312.1:p.Phe694Val
XM_011528011.1:c.1699T>G	XP_011526313.1:p.Phe567Val
XR_244074.2:n.2090T>G
XM_011528010.2:c.2080T>G	XP_011526312.1:p.Phe694Val
XR_001753685.2:n.2197T>G
XR_001753686.2:n.2057T>G
NM_000527.5:c.2080T>G MANE Select	NP_000518.1:p.Phe694Val
NM_001195798.2:c.2080T>G	NP_001182727.1:p.Phe694Val
NM_001195799.2:c.1957T>G	NP_001182728.1:p.Phe653Val
NM_001195800.2:c.1576T>G	NP_001182729.1:p.Phe526Val
NM_001195803.2:c.1606+229T>G	NP_001182732.1:n.1606+229T>G