Canonical Allele Identifier: CA10585120
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251440
ClinVar RCV Id: RCV000238021
dbSNP Id: rs879254668

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106633T>A , CM000681.2:g.11106633T>A GRCh38
NC_000019.9:g.11217309T>A , CM000681.1:g.11217309T>A GRCh37
NC_000019.8:g.11078309T>A NCBI36
NG_009060.1:g.22253T>A , LRG_274:g.22253T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1021T>A ENSP00000252444.6:p.Cys341Ser
ENST00000559340.2:c.763T>A ENSP00000453696.2:p.Cys255Ser
ENST00000560467.2:c.763T>A ENSP00000453513.2:p.Cys255Ser
ENST00000558518.6:c.763T>A MANE Select ENSP00000454071.1:p.Cys255Ser
ENST00000252444.9:c.1017T>A
ENST00000455727.6:c.314-759T>A ENSP00000397829.2:n.314-759T>A
ENST00000535915.5:c.640T>A ENSP00000440520.1:p.Cys214Ser
ENST00000545707.5:c.382T>A ENSP00000437639.1:p.Cys128Ser
ENST00000557933.5:c.763T>A ENSP00000453557.1:p.Cys255Ser
ENST00000558013.5:c.763T>A ENSP00000453346.1:p.Cys255Ser
ENST00000558518.5:c.763T>A ENSP00000454071.1:p.Cys255Ser
ENST00000558528.1:n.278T>A
ENST00000560467.1:c.363T>A
NM_000527.4:c.763T>A , LRG_274t1:c.763T>A NP_000518.1:p.Cys255Ser
NM_001195798.1:c.763T>A NP_001182727.1:p.Cys255Ser
NM_001195799.1:c.640T>A NP_001182728.1:p.Cys214Ser
NM_001195800.1:c.314-759T>A NP_001182729.1:n.314-759T>A
NM_001195803.1:c.382T>A NP_001182732.1:p.Cys128Ser
XM_011528010.1:c.763T>A XP_011526312.1:p.Cys255Ser
XM_011528011.1:c.382T>A XP_011526313.1:p.Cys128Ser
XR_244074.2:n.913T>A
XM_011528010.2:c.763T>A XP_011526312.1:p.Cys255Ser
XR_001753685.2:n.880T>A
XR_001753686.2:n.880T>A
NM_000527.5:c.763T>A MANE Select NP_000518.1:p.Cys255Ser
NM_001195798.2:c.763T>A NP_001182727.1:p.Cys255Ser
NM_001195799.2:c.640T>A NP_001182728.1:p.Cys214Ser
NM_001195800.2:c.314-759T>A NP_001182729.1:n.314-759T>A
NM_001195803.2:c.382T>A NP_001182732.1:p.Cys128Ser