Canonical Allele Identifier: CA404093566
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2681997
ClinVar RCV Id: RCV003477289

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120413C>A , CM000681.2:g.11120413C>A GRCh38
NC_000019.9:g.11231089C>A , CM000681.1:g.11231089C>A GRCh37
NC_000019.8:g.11092089C>A NCBI36
NG_009060.1:g.36033C>A , LRG_274:g.36033C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2289C>A ENSP00000252444.6:p.Cys763Ter
ENST00000559340.2:c.*100C>A ENSP00000453696.2:n.*100C>A
ENST00000560467.2:c.1911C>A ENSP00000453513.2:p.Cys637Ter
ENST00000558518.6:c.2031C>A MANE Select ENSP00000454071.1:p.Cys677Ter
ENST00000252444.9:c.2285C>A
ENST00000455727.6:c.1527C>A ENSP00000397829.2:p.Cys509Ter
ENST00000535915.5:c.1908C>A ENSP00000440520.1:p.Cys636Ter
ENST00000545707.5:c.1606+180C>A ENSP00000437639.1:n.1606+180C>A
ENST00000557933.5:c.2031C>A ENSP00000453557.1:p.Cys677Ter
ENST00000558013.5:c.2031C>A ENSP00000453346.1:p.Cys677Ter
ENST00000558518.5:c.2031C>A ENSP00000454071.1:p.Cys677Ter
NM_000527.4:c.2031C>A , LRG_274t1:c.2031C>A NP_000518.1:p.Cys677Ter
NM_001195798.1:c.2031C>A NP_001182727.1:p.Cys677Ter
NM_001195799.1:c.1908C>A NP_001182728.1:p.Cys636Ter
NM_001195800.1:c.1527C>A NP_001182729.1:p.Cys509Ter
NM_001195803.1:c.1606+180C>A NP_001182732.1:n.1606+180C>A
XM_011528010.1:c.2031C>A XP_011526312.1:p.Cys677Ter
XM_011528011.1:c.1650C>A XP_011526313.1:p.Cys550Ter
XR_244074.2:n.2041C>A
XM_011528010.2:c.2031C>A XP_011526312.1:p.Cys677Ter
XR_001753685.2:n.2148C>A
XR_001753686.2:n.2008C>A
NM_000527.5:c.2031C>A MANE Select NP_000518.1:p.Cys677Ter
NM_001195798.2:c.2031C>A NP_001182727.1:p.Cys677Ter
NM_001195799.2:c.1908C>A NP_001182728.1:p.Cys636Ter
NM_001195800.2:c.1527C>A NP_001182729.1:p.Cys509Ter
NM_001195803.2:c.1606+180C>A NP_001182732.1:n.1606+180C>A