Canonical Allele Identifier: CA10585399
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251782
ClinVar RCV Id: RCV000238500
dbSNP Id: rs879254862

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113413T>A , CM000681.2:g.11113413T>A GRCh38
NC_000019.9:g.11224089T>A , CM000681.1:g.11224089T>A GRCh37
NC_000019.8:g.11085089T>A NCBI36
NG_009060.1:g.29033T>A , LRG_274:g.29033T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1580T>A ENSP00000252444.6:p.Ile527Asn
ENST00000559340.2:c.1322T>A ENSP00000453696.2:p.Ile441Asn
ENST00000560467.2:c.1202T>A ENSP00000453513.2:p.Ile401Asn
ENST00000558518.6:c.1322T>A MANE Select ENSP00000454071.1:p.Ile441Asn
ENST00000252444.9:c.1576T>A
ENST00000455727.6:c.818T>A ENSP00000397829.2:p.Ile273Asn
ENST00000535915.5:c.1199T>A ENSP00000440520.1:p.Ile400Asn
ENST00000545707.5:c.941T>A ENSP00000437639.1:p.Ile314Asn
ENST00000557933.5:c.1322T>A ENSP00000453557.1:p.Ile441Asn
ENST00000558013.5:c.1322T>A ENSP00000453346.1:p.Ile441Asn
ENST00000558518.5:c.1322T>A ENSP00000454071.1:p.Ile441Asn
ENST00000559340.1:c.43T>A
ENST00000560173.1:n.321T>A
ENST00000560467.1:c.802T>A
NM_000527.4:c.1322T>A , LRG_274t1:c.1322T>A NP_000518.1:p.Ile441Asn
NM_001195798.1:c.1322T>A NP_001182727.1:p.Ile441Asn
NM_001195799.1:c.1199T>A NP_001182728.1:p.Ile400Asn
NM_001195800.1:c.818T>A NP_001182729.1:p.Ile273Asn
NM_001195803.1:c.941T>A NP_001182732.1:p.Ile314Asn
XM_011528010.1:c.1322T>A XP_011526312.1:p.Ile441Asn
XM_011528011.1:c.941T>A XP_011526313.1:p.Ile314Asn
XR_244074.2:n.1472T>A
XM_011528010.2:c.1322T>A XP_011526312.1:p.Ile441Asn
XR_001753685.2:n.1439T>A
XR_001753686.2:n.1439T>A
NM_000527.5:c.1322T>A MANE Select NP_000518.1:p.Ile441Asn
NM_001195798.2:c.1322T>A NP_001182727.1:p.Ile441Asn
NM_001195799.2:c.1199T>A NP_001182728.1:p.Ile400Asn
NM_001195800.2:c.818T>A NP_001182729.1:p.Ile273Asn
NM_001195803.2:c.941T>A NP_001182732.1:p.Ile314Asn