Canonical Allele Identifier: CA2322774309
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11118111T= , CM000681.2:g.11118111T= GRCh38
NC_000019.9:g.11228787T= , CM000681.1:g.11228787T= GRCh37
NC_000019.8:g.11089787T= NCBI36
NG_009060.1:g.33731T= , LRG_274:g.33731T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+1113T= ENSP00000252444.6:n.2103+1113T=
ENST00000559340.2:c.1705+1899T= ENSP00000453696.2:n.1705+1899T=
ENST00000560467.2:c.1725+1113T= ENSP00000453513.2:n.1725+1113T=
ENST00000558518.6:c.1845+1113T= MANE Select ENSP00000454071.1:n.1845+1113T=
ENST00000252444.9:c.2099+1113T=
ENST00000455727.6:c.1341+1113T= ENSP00000397829.2:n.1341+1113T=
ENST00000535915.5:c.1722+1113T= ENSP00000440520.1:n.1722+1113T=
ENST00000545707.5:c.1464+1113T= ENSP00000437639.1:n.1464+1113T=
ENST00000557933.5:c.1845+1113T= ENSP00000453557.1:n.1845+1113T=
ENST00000558013.5:c.1845+1113T= ENSP00000453346.1:n.1845+1113T=
ENST00000558518.5:c.1845+1113T= ENSP00000454071.1:n.1845+1113T=
ENST00000559340.1:c.426+1899T=
NM_000527.4:c.1845+1113T= , LRG_274t1:c.1845+1113T= NP_000518.1:n.1845+1113T=
NM_001195798.1:c.1845+1113T= NP_001182727.1:n.1845+1113T=
NM_001195799.1:c.1722+1113T= NP_001182728.1:n.1722+1113T=
NM_001195800.1:c.1341+1113T= NP_001182729.1:n.1341+1113T=
NM_001195803.1:c.1464+1113T= NP_001182732.1:n.1464+1113T=
XM_011528010.1:c.1845+1113T= XP_011526312.1:n.1845+1113T=
XM_011528011.1:c.1464+1113T= XP_011526313.1:n.1464+1113T=
XR_244074.2:n.1855+1899T=
XM_011528010.2:c.1845+1113T= XP_011526312.1:n.1845+1113T=
XR_001753685.2:n.1962+1113T=
XR_001753686.2:n.1822+1899T=
NM_000527.5:c.1845+1113T= MANE Select NP_000518.1:n.1845+1113T=
NM_001195798.2:c.1845+1113T= NP_001182727.1:n.1845+1113T=
NM_001195799.2:c.1722+1113T= NP_001182728.1:n.1722+1113T=
NM_001195800.2:c.1341+1113T= NP_001182729.1:n.1341+1113T=
NM_001195803.2:c.1464+1113T= NP_001182732.1:n.1464+1113T=