Canonical Allele Identifier: CA10585325

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251686
• ClinVar RCV Id: RCV000237805
• dbSNP Id: rs879254804
• MyVariant Identifiers: chr19:g.11222265G>A (hg19) ; chr19:g.11111589G>A (hg38)
• PubMed: PMID:9852677 ; PMID:11600564 ; PMID:16530458

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111589G>A , CM000681.2:g.11111589G>A	GRCh38
NC_000019.9:g.11222265G>A , CM000681.1:g.11222265G>A	GRCh37
NC_000019.8:g.11083265G>A	NCBI36
NG_009060.1:g.27209G>A , LRG_274:g.27209G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1394G>A	ENSP00000252444.6:p.Cys465Tyr
ENST00000559340.2:c.1136G>A	ENSP00000453696.2:p.Cys379Tyr
ENST00000560467.2:c.1016G>A	ENSP00000453513.2:p.Cys339Tyr
ENST00000558518.6:c.1136G>A MANE Select	ENSP00000454071.1:p.Cys379Tyr
ENST00000252444.9:c.1390G>A
ENST00000455727.6:c.632G>A	ENSP00000397829.2:p.Cys211Tyr
ENST00000535915.5:c.1013G>A	ENSP00000440520.1:p.Cys338Tyr
ENST00000545707.5:c.755G>A	ENSP00000437639.1:p.Cys252Tyr
ENST00000557933.5:c.1136G>A	ENSP00000453557.1:p.Cys379Tyr
ENST00000558013.5:c.1136G>A	ENSP00000453346.1:p.Cys379Tyr
ENST00000558518.5:c.1136G>A	ENSP00000454071.1:p.Cys379Tyr
ENST00000560173.1:n.135G>A
ENST00000560467.1:c.616G>A
NM_000527.4:c.1136G>A , LRG_274t1:c.1136G>A	NP_000518.1:p.Cys379Tyr
NM_001195798.1:c.1136G>A	NP_001182727.1:p.Cys379Tyr
NM_001195799.1:c.1013G>A	NP_001182728.1:p.Cys338Tyr
NM_001195800.1:c.632G>A	NP_001182729.1:p.Cys211Tyr
NM_001195803.1:c.755G>A	NP_001182732.1:p.Cys252Tyr
XM_011528010.1:c.1136G>A	XP_011526312.1:p.Cys379Tyr
XM_011528011.1:c.755G>A	XP_011526313.1:p.Cys252Tyr
XR_244074.2:n.1286G>A
XM_011528010.2:c.1136G>A	XP_011526312.1:p.Cys379Tyr
XR_001753685.2:n.1253G>A
XR_001753686.2:n.1253G>A
NM_000527.5:c.1136G>A MANE Select	NP_000518.1:p.Cys379Tyr
NM_001195798.2:c.1136G>A	NP_001182727.1:p.Cys379Tyr
NM_001195799.2:c.1013G>A	NP_001182728.1:p.Cys338Tyr
NM_001195800.2:c.632G>A	NP_001182729.1:p.Cys211Tyr
NM_001195803.2:c.755G>A	NP_001182732.1:p.Cys252Tyr