Canonical Allele Identifier: CA2322779513
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128016G= , CM000681.2:g.11128016G= GRCh38
NC_000019.9:g.11238692G= , CM000681.1:g.11238692G= GRCh37
NC_000019.8:g.11099692G= NCBI36
NG_009060.1:g.43636G= , LRG_274:g.43636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2578G= ENSP00000252444.6:p.Asp860=
ENST00000559340.2:c.*389G= ENSP00000453696.2:n.*389G=
ENST00000560467.2:c.2200G= ENSP00000453513.2:p.Asp734=
ENST00000558518.6:c.2320G= MANE Select ENSP00000454071.1:p.Asp774=
ENST00000252444.9:c.2574G=
ENST00000455727.6:c.1816G= ENSP00000397829.2:p.Asp606=
ENST00000535915.5:c.2197G= ENSP00000440520.1:p.Asp733=
ENST00000545707.5:c.1786G= ENSP00000437639.1:p.Asp596=
ENST00000557933.5:c.2320G= ENSP00000453557.1:p.Asp774=
ENST00000558013.5:c.2320G= ENSP00000453346.1:p.Asp774=
ENST00000558518.5:c.2320G= ENSP00000454071.1:p.Asp774=
ENST00000560628.1:n.108+362G=
NM_000527.4:c.2320G= , LRG_274t1:c.2320G= NP_000518.1:p.Asp774=
NM_001195798.1:c.2320G= NP_001182727.1:p.Asp774=
NM_001195799.1:c.2197G= NP_001182728.1:p.Asp733=
NM_001195800.1:c.1816G= NP_001182729.1:p.Asp606=
NM_001195803.1:c.1786G= NP_001182732.1:p.Asp596=
XM_011528010.1:c.2312-1497G= XP_011526312.1:n.2312-1497G=
XM_011528011.1:c.1939G= XP_011526313.1:p.Asp647=
XR_244074.2:n.2330G=
XM_011528010.2:c.2312-1497G= XP_011526312.1:n.2312-1497G=
XR_001753685.2:n.2654G=
XR_001753686.2:n.2297G=
NM_000527.5:c.2320G= MANE Select NP_000518.1:p.Asp774=
NM_001195798.2:c.2320G= NP_001182727.1:p.Asp774=
NM_001195799.2:c.2197G= NP_001182728.1:p.Asp733=
NM_001195800.2:c.1816G= NP_001182729.1:p.Asp606=
NM_001195803.2:c.1786G= NP_001182732.1:p.Asp596=