Canonical Allele Identifier: CA2322780292
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129595C= , CM000681.2:g.11129595C= GRCh38
NC_000019.9:g.11240271C= , CM000681.1:g.11240271C= GRCh37
NC_000019.8:g.11101271C= NCBI36
NG_009060.1:g.45215C= , LRG_274:g.45215C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2730C= ENSP00000252444.6:p.Asp910=
ENST00000559340.2:c.*541C= ENSP00000453696.2:n.*541C=
ENST00000560467.2:c.2352C= ENSP00000453513.2:p.Asp784=
ENST00000558518.6:c.2472C= MANE Select ENSP00000454071.1:p.Asp824=
ENST00000252444.9:c.2726C=
ENST00000455727.6:c.1968C= ENSP00000397829.2:p.Asp656=
ENST00000535915.5:c.2349C= ENSP00000440520.1:p.Asp783=
ENST00000545707.5:c.1938C= ENSP00000437639.1:p.Asp646=
ENST00000557933.5:c.2534C= ENSP00000453557.1:p.Thr845=
ENST00000558013.5:c.2472C= ENSP00000453346.1:p.Asp824=
ENST00000558518.5:c.2472C= ENSP00000454071.1:p.Asp824=
ENST00000560628.1:n.108+1941C=
NM_000527.4:c.2472C= , LRG_274t1:c.2472C= NP_000518.1:p.Asp824=
NM_001195798.1:c.2472C= NP_001182727.1:p.Asp824=
NM_001195799.1:c.2349C= NP_001182728.1:p.Asp783=
NM_001195800.1:c.1968C= NP_001182729.1:p.Asp656=
NM_001195803.1:c.1938C= NP_001182732.1:p.Asp646=
XM_011528010.1:c.2394C= XP_011526312.1:p.Asp798=
XM_011528011.1:c.2091C= XP_011526313.1:p.Asp697=
XM_011528010.2:c.2394C= XP_011526312.1:p.Asp798=
XR_001753685.2:n.2806C=
XR_001753686.2:n.2449C=
NM_000527.5:c.2472C= MANE Select NP_000518.1:p.Asp824=
NM_001195798.2:c.2472C= NP_001182727.1:p.Asp824=
NM_001195799.2:c.2349C= NP_001182728.1:p.Asp783=
NM_001195800.2:c.1968C= NP_001182729.1:p.Asp656=
NM_001195803.2:c.1938C= NP_001182732.1:p.Asp646=