Canonical Allele Identifier: CA404099674
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2749214
ClinVar RCV Id: RCV003582814

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129640C>T , CM000681.2:g.11129640C>T GRCh38
NC_000019.9:g.11240316C>T , CM000681.1:g.11240316C>T GRCh37
NC_000019.8:g.11101316C>T NCBI36
NG_009060.1:g.45260C>T , LRG_274:g.45260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2775C>T ENSP00000252444.6:p.Cys925=
ENST00000559340.2:c.*586C>T ENSP00000453696.2:n.*586C>T
ENST00000560467.2:c.2397C>T ENSP00000453513.2:p.Cys799=
ENST00000558518.6:c.2517C>T MANE Select ENSP00000454071.1:p.Cys839=
ENST00000252444.9:c.2771C>T
ENST00000455727.6:c.2013C>T ENSP00000397829.2:p.Cys671=
ENST00000535915.5:c.2394C>T ENSP00000440520.1:p.Cys798=
ENST00000545707.5:c.1983C>T ENSP00000437639.1:p.Cys661=
ENST00000557933.5:c.2579C>T ENSP00000453557.1:p.Ala860Val
ENST00000558013.5:c.2517C>T ENSP00000453346.1:p.Cys839=
ENST00000558518.5:c.2517C>T ENSP00000454071.1:p.Cys839=
ENST00000560628.1:n.108+1986C>T
NM_000527.4:c.2517C>T , LRG_274t1:c.2517C>T NP_000518.1:p.Cys839=
NM_001195798.1:c.2517C>T NP_001182727.1:p.Cys839=
NM_001195799.1:c.2394C>T NP_001182728.1:p.Cys798=
NM_001195800.1:c.2013C>T NP_001182729.1:p.Cys671=
NM_001195803.1:c.1983C>T NP_001182732.1:p.Cys661=
XM_011528010.1:c.2439C>T XP_011526312.1:p.Cys813=
XM_011528011.1:c.2136C>T XP_011526313.1:p.Cys712=
XM_011528010.2:c.2439C>T XP_011526312.1:p.Cys813=
XR_001753685.2:n.2851C>T
XR_001753686.2:n.2494C>T
NM_000527.5:c.2517C>T MANE Select NP_000518.1:p.Cys839=
NM_001195798.2:c.2517C>T NP_001182727.1:p.Cys839=
NM_001195799.2:c.2394C>T NP_001182728.1:p.Cys798=
NM_001195800.2:c.2013C>T NP_001182729.1:p.Cys671=
NM_001195803.2:c.1983C>T NP_001182732.1:p.Cys661=