Canonical Allele Identifier: CA404086021
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 992900
ClinVar RCV Id: RCV001281670
dbSNP Id: rs879254900

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113612T>A , CM000681.2:g.11113612T>A GRCh38
NC_000019.9:g.11224288T>A , CM000681.1:g.11224288T>A GRCh37
NC_000019.8:g.11085288T>A NCBI36
NG_009060.1:g.29232T>A , LRG_274:g.29232T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1694T>A ENSP00000252444.6:p.Leu565Gln
ENST00000559340.2:c.1436T>A ENSP00000453696.2:p.Leu479Gln
ENST00000560467.2:c.1316T>A ENSP00000453513.2:p.Leu439Gln
ENST00000558518.6:c.1436T>A MANE Select ENSP00000454071.1:p.Leu479Gln
ENST00000252444.9:c.1690T>A
ENST00000455727.6:c.932T>A ENSP00000397829.2:p.Leu311Gln
ENST00000535915.5:c.1313T>A ENSP00000440520.1:p.Leu438Gln
ENST00000545707.5:c.1055T>A ENSP00000437639.1:p.Leu352Gln
ENST00000557933.5:c.1436T>A ENSP00000453557.1:p.Leu479Gln
ENST00000558013.5:c.1436T>A ENSP00000453346.1:p.Leu479Gln
ENST00000558518.5:c.1436T>A ENSP00000454071.1:p.Leu479Gln
ENST00000559340.1:c.157T>A
ENST00000560467.1:c.916T>A
NM_000527.4:c.1436T>A , LRG_274t1:c.1436T>A NP_000518.1:p.Leu479Gln
NM_001195798.1:c.1436T>A NP_001182727.1:p.Leu479Gln
NM_001195799.1:c.1313T>A NP_001182728.1:p.Leu438Gln
NM_001195800.1:c.932T>A NP_001182729.1:p.Leu311Gln
NM_001195803.1:c.1055T>A NP_001182732.1:p.Leu352Gln
XM_011528010.1:c.1436T>A XP_011526312.1:p.Leu479Gln
XM_011528011.1:c.1055T>A XP_011526313.1:p.Leu352Gln
XR_244074.2:n.1586T>A
XM_011528010.2:c.1436T>A XP_011526312.1:p.Leu479Gln
XR_001753685.2:n.1553T>A
XR_001753686.2:n.1553T>A
NM_000527.5:c.1436T>A MANE Select NP_000518.1:p.Leu479Gln
NM_001195798.2:c.1436T>A NP_001182727.1:p.Leu479Gln
NM_001195799.2:c.1313T>A NP_001182728.1:p.Leu438Gln
NM_001195800.2:c.932T>A NP_001182729.1:p.Leu311Gln
NM_001195803.2:c.1055T>A NP_001182732.1:p.Leu352Gln