Canonical Allele Identifier: CA404084922
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2743216
ClinVar RCV Id: RCV003582733

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113375C>A , CM000681.2:g.11113375C>A GRCh38
NC_000019.9:g.11224051C>A , CM000681.1:g.11224051C>A GRCh37
NC_000019.8:g.11085051C>A NCBI36
NG_009060.1:g.28995C>A , LRG_274:g.28995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1542C>A ENSP00000252444.6:p.Asn514Lys
ENST00000559340.2:c.1284C>A ENSP00000453696.2:p.Asn428Lys
ENST00000560467.2:c.1164C>A ENSP00000453513.2:p.Asn388Lys
ENST00000558518.6:c.1284C>A MANE Select ENSP00000454071.1:p.Asn428Lys
ENST00000252444.9:c.1538C>A
ENST00000455727.6:c.780C>A ENSP00000397829.2:p.Asn260Lys
ENST00000535915.5:c.1161C>A ENSP00000440520.1:p.Asn387Lys
ENST00000545707.5:c.903C>A ENSP00000437639.1:p.Asn301Lys
ENST00000557933.5:c.1284C>A ENSP00000453557.1:p.Asn428Lys
ENST00000558013.5:c.1284C>A ENSP00000453346.1:p.Asn428Lys
ENST00000558518.5:c.1284C>A ENSP00000454071.1:p.Asn428Lys
ENST00000559340.1:c.5C>A
ENST00000560173.1:n.283C>A
ENST00000560467.1:c.764C>A
NM_000527.4:c.1284C>A , LRG_274t1:c.1284C>A NP_000518.1:p.Asn428Lys
NM_001195798.1:c.1284C>A NP_001182727.1:p.Asn428Lys
NM_001195799.1:c.1161C>A NP_001182728.1:p.Asn387Lys
NM_001195800.1:c.780C>A NP_001182729.1:p.Asn260Lys
NM_001195803.1:c.903C>A NP_001182732.1:p.Asn301Lys
XM_011528010.1:c.1284C>A XP_011526312.1:p.Asn428Lys
XM_011528011.1:c.903C>A XP_011526313.1:p.Asn301Lys
XR_244074.2:n.1434C>A
XM_011528010.2:c.1284C>A XP_011526312.1:p.Asn428Lys
XR_001753685.2:n.1401C>A
XR_001753686.2:n.1401C>A
NM_000527.5:c.1284C>A MANE Select NP_000518.1:p.Asn428Lys
NM_001195798.2:c.1284C>A NP_001182727.1:p.Asn428Lys
NM_001195799.2:c.1161C>A NP_001182728.1:p.Asn387Lys
NM_001195800.2:c.780C>A NP_001182729.1:p.Asn260Lys
NM_001195803.2:c.903C>A NP_001182732.1:p.Asn301Lys