Canonical Allele Identifier: CA2322775535
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120380G= , CM000681.2:g.11120380G= GRCh38
NC_000019.9:g.11231056G= , CM000681.1:g.11231056G= GRCh37
NC_000019.8:g.11092056G= NCBI36
NG_009060.1:g.36000G= , LRG_274:g.36000G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2256G= ENSP00000252444.6:p.Trp752=
ENST00000559340.2:c.*67G= ENSP00000453696.2:n.*67G=
ENST00000560467.2:c.1878G= ENSP00000453513.2:p.Trp626=
ENST00000558518.6:c.1998G= MANE Select ENSP00000454071.1:p.Trp666=
ENST00000252444.9:c.2252G=
ENST00000455727.6:c.1494G= ENSP00000397829.2:p.Trp498=
ENST00000535915.5:c.1875G= ENSP00000440520.1:p.Trp625=
ENST00000545707.5:c.1606+147G= ENSP00000437639.1:n.1606+147G=
ENST00000557933.5:c.1998G= ENSP00000453557.1:p.Trp666=
ENST00000558013.5:c.1998G= ENSP00000453346.1:p.Trp666=
ENST00000558518.5:c.1998G= ENSP00000454071.1:p.Trp666=
ENST00000559340.1:c.579G=
NM_000527.4:c.1998G= , LRG_274t1:c.1998G= NP_000518.1:p.Trp666=
NM_001195798.1:c.1998G= NP_001182727.1:p.Trp666=
NM_001195799.1:c.1875G= NP_001182728.1:p.Trp625=
NM_001195800.1:c.1494G= NP_001182729.1:p.Trp498=
NM_001195803.1:c.1606+147G= NP_001182732.1:n.1606+147G=
XM_011528010.1:c.1998G= XP_011526312.1:p.Trp666=
XM_011528011.1:c.1617G= XP_011526313.1:p.Trp539=
XR_244074.2:n.2008G=
XM_011528010.2:c.1998G= XP_011526312.1:p.Trp666=
XR_001753685.2:n.2115G=
XR_001753686.2:n.1975G=
NM_000527.5:c.1998G= MANE Select NP_000518.1:p.Trp666=
NM_001195798.2:c.1998G= NP_001182727.1:p.Trp666=
NM_001195799.2:c.1875G= NP_001182728.1:p.Trp625=
NM_001195800.2:c.1494G= NP_001182729.1:p.Trp498=
NM_001195803.2:c.1606+147G= NP_001182732.1:n.1606+147G=