Canonical Allele Identifier: CA2322767470
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105440T= , CM000681.2:g.11105440T= GRCh38
NC_000019.9:g.11216116T= , CM000681.1:g.11216116T= GRCh37
NC_000019.8:g.11077116T= NCBI36
NG_009060.1:g.21060T= , LRG_274:g.21060T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.792T= ENSP00000252444.6:p.Asp264=
ENST00000559340.2:c.534T= ENSP00000453696.2:p.Asp178=
ENST00000560467.2:c.534T= ENSP00000453513.2:p.Asp178=
ENST00000558518.6:c.534T= MANE Select ENSP00000454071.1:p.Asp178=
ENST00000252444.9:c.788T=
ENST00000455727.6:c.314-1952T= ENSP00000397829.2:n.314-1952T=
ENST00000535915.5:c.411T= ENSP00000440520.1:p.Asp137=
ENST00000545707.5:c.314-1125T= ENSP00000437639.1:n.314-1125T=
ENST00000557933.5:c.534T= ENSP00000453557.1:p.Asp178=
ENST00000558013.5:c.534T= ENSP00000453346.1:p.Asp178=
ENST00000558518.5:c.534T= ENSP00000454071.1:p.Asp178=
ENST00000560467.1:c.134T=
NM_000527.4:c.534T= , LRG_274t1:c.534T= NP_000518.1:p.Asp178=
NM_001195798.1:c.534T= NP_001182727.1:p.Asp178=
NM_001195799.1:c.411T= NP_001182728.1:p.Asp137=
NM_001195800.1:c.314-1952T= NP_001182729.1:n.314-1952T=
NM_001195803.1:c.314-1125T= NP_001182732.1:n.314-1125T=
XM_011528010.1:c.534T= XP_011526312.1:p.Asp178=
XM_011528011.1:c.314-1125T= XP_011526313.1:n.314-1125T=
XR_244074.2:n.684T=
XM_011528010.2:c.534T= XP_011526312.1:p.Asp178=
XR_001753685.2:n.651T=
XR_001753686.2:n.651T=
NM_000527.5:c.534T= MANE Select NP_000518.1:p.Asp178=
NM_001195798.2:c.534T= NP_001182727.1:p.Asp178=
NM_001195799.2:c.411T= NP_001182728.1:p.Asp137=
NM_001195800.2:c.314-1952T= NP_001182729.1:n.314-1952T=
NM_001195803.2:c.314-1125T= NP_001182732.1:n.314-1125T=