Canonical Allele Identifier: CA404093862
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2453918
ClinVar RCV Id: RCV003188053

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120468T>A , CM000681.2:g.11120468T>A GRCh38
NC_000019.9:g.11231144T>A , CM000681.1:g.11231144T>A GRCh37
NC_000019.8:g.11092144T>A NCBI36
NG_009060.1:g.36088T>A , LRG_274:g.36088T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2344T>A ENSP00000252444.6:p.Cys782Ser
ENST00000559340.2:c.*155T>A ENSP00000453696.2:n.*155T>A
ENST00000560467.2:c.1966T>A ENSP00000453513.2:p.Cys656Ser
ENST00000558518.6:c.2086T>A MANE Select ENSP00000454071.1:p.Cys696Ser
ENST00000252444.9:c.2340T>A
ENST00000455727.6:c.1582T>A ENSP00000397829.2:p.Cys528Ser
ENST00000535915.5:c.1963T>A ENSP00000440520.1:p.Cys655Ser
ENST00000545707.5:c.1606+235T>A ENSP00000437639.1:n.1606+235T>A
ENST00000557933.5:c.2086T>A ENSP00000453557.1:p.Cys696Ser
ENST00000558013.5:c.2086T>A ENSP00000453346.1:p.Cys696Ser
ENST00000558518.5:c.2086T>A ENSP00000454071.1:p.Cys696Ser
NM_000527.4:c.2086T>A , LRG_274t1:c.2086T>A NP_000518.1:p.Cys696Ser
NM_001195798.1:c.2086T>A NP_001182727.1:p.Cys696Ser
NM_001195799.1:c.1963T>A NP_001182728.1:p.Cys655Ser
NM_001195800.1:c.1582T>A NP_001182729.1:p.Cys528Ser
NM_001195803.1:c.1606+235T>A NP_001182732.1:n.1606+235T>A
XM_011528010.1:c.2086T>A XP_011526312.1:p.Cys696Ser
XM_011528011.1:c.1705T>A XP_011526313.1:p.Cys569Ser
XR_244074.2:n.2096T>A
XM_011528010.2:c.2086T>A XP_011526312.1:p.Cys696Ser
XR_001753685.2:n.2203T>A
XR_001753686.2:n.2063T>A
NM_000527.5:c.2086T>A MANE Select NP_000518.1:p.Cys696Ser
NM_001195798.2:c.2086T>A NP_001182727.1:p.Cys696Ser
NM_001195799.2:c.1963T>A NP_001182728.1:p.Cys655Ser
NM_001195800.2:c.1582T>A NP_001182729.1:p.Cys528Ser
NM_001195803.2:c.1606+235T>A NP_001182732.1:n.1606+235T>A