Canonical Allele Identifier: CA2322767447
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105417C= , CM000681.2:g.11105417C= GRCh38
NC_000019.9:g.11216093C= , CM000681.1:g.11216093C= GRCh37
NC_000019.8:g.11077093C= NCBI36
NG_009060.1:g.21037C= , LRG_274:g.21037C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.769C= ENSP00000252444.6:p.Pro257=
ENST00000559340.2:c.511C= ENSP00000453696.2:p.Pro171=
ENST00000560467.2:c.511C= ENSP00000453513.2:p.Pro171=
ENST00000558518.6:c.511C= MANE Select ENSP00000454071.1:p.Pro171=
ENST00000252444.9:c.765C=
ENST00000455727.6:c.314-1975C= ENSP00000397829.2:n.314-1975C=
ENST00000535915.5:c.388C= ENSP00000440520.1:p.Pro130=
ENST00000545707.5:c.314-1148C= ENSP00000437639.1:n.314-1148C=
ENST00000557933.5:c.511C= ENSP00000453557.1:p.Pro171=
ENST00000558013.5:c.511C= ENSP00000453346.1:p.Pro171=
ENST00000558518.5:c.511C= ENSP00000454071.1:p.Pro171=
ENST00000560467.1:c.111C=
NM_000527.4:c.511C= , LRG_274t1:c.511C= NP_000518.1:p.Pro171=
NM_001195798.1:c.511C= NP_001182727.1:p.Pro171=
NM_001195799.1:c.388C= NP_001182728.1:p.Pro130=
NM_001195800.1:c.314-1975C= NP_001182729.1:n.314-1975C=
NM_001195803.1:c.314-1148C= NP_001182732.1:n.314-1148C=
XM_011528010.1:c.511C= XP_011526312.1:p.Pro171=
XM_011528011.1:c.314-1148C= XP_011526313.1:n.314-1148C=
XR_244074.2:n.661C=
XM_011528010.2:c.511C= XP_011526312.1:p.Pro171=
XR_001753685.2:n.628C=
XR_001753686.2:n.628C=
NM_000527.5:c.511C= MANE Select NP_000518.1:p.Pro171=
NM_001195798.2:c.511C= NP_001182727.1:p.Pro171=
NM_001195799.2:c.388C= NP_001182728.1:p.Pro130=
NM_001195800.2:c.314-1975C= NP_001182729.1:n.314-1975C=
NM_001195803.2:c.314-1148C= NP_001182732.1:n.314-1148C=