Canonical Allele Identifier: CA2322779507
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128011T= , CM000681.2:g.11128011T= GRCh38
NC_000019.9:g.11238687T= , CM000681.1:g.11238687T= GRCh37
NC_000019.8:g.11099687T= NCBI36
NG_009060.1:g.43631T= , LRG_274:g.43631T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2573T= ENSP00000252444.6:p.Leu858=
ENST00000559340.2:c.*384T= ENSP00000453696.2:n.*384T=
ENST00000560467.2:c.2195T= ENSP00000453513.2:p.Leu732=
ENST00000558518.6:c.2315T= MANE Select ENSP00000454071.1:p.Leu772=
ENST00000252444.9:c.2569T=
ENST00000455727.6:c.1811T= ENSP00000397829.2:p.Leu604=
ENST00000535915.5:c.2192T= ENSP00000440520.1:p.Leu731=
ENST00000545707.5:c.1781T= ENSP00000437639.1:p.Leu594=
ENST00000557933.5:c.2315T= ENSP00000453557.1:p.Leu772=
ENST00000558013.5:c.2315T= ENSP00000453346.1:p.Leu772=
ENST00000558518.5:c.2315T= ENSP00000454071.1:p.Leu772=
ENST00000560628.1:n.108+357T=
NM_000527.4:c.2315T= , LRG_274t1:c.2315T= NP_000518.1:p.Leu772=
NM_001195798.1:c.2315T= NP_001182727.1:p.Leu772=
NM_001195799.1:c.2192T= NP_001182728.1:p.Leu731=
NM_001195800.1:c.1811T= NP_001182729.1:p.Leu604=
NM_001195803.1:c.1781T= NP_001182732.1:p.Leu594=
XM_011528010.1:c.2312-1502T= XP_011526312.1:n.2312-1502T=
XM_011528011.1:c.1934T= XP_011526313.1:p.Leu645=
XR_244074.2:n.2325T=
XM_011528010.2:c.2312-1502T= XP_011526312.1:n.2312-1502T=
XR_001753685.2:n.2649T=
XR_001753686.2:n.2292T=
NM_000527.5:c.2315T= MANE Select NP_000518.1:p.Leu772=
NM_001195798.2:c.2315T= NP_001182727.1:p.Leu772=
NM_001195799.2:c.2192T= NP_001182728.1:p.Leu731=
NM_001195800.2:c.1811T= NP_001182729.1:p.Leu604=
NM_001195803.2:c.1781T= NP_001182732.1:p.Leu594=