Canonical Allele Identifier: CA404099501
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129624A>C , CM000681.2:g.11129624A>C GRCh38
NC_000019.9:g.11240300A>C , CM000681.1:g.11240300A>C GRCh37
NC_000019.8:g.11101300A>C NCBI36
NG_009060.1:g.45244A>C , LRG_274:g.45244A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2759A>C ENSP00000252444.6:p.Asp920Ala
ENST00000559340.2:c.*570A>C ENSP00000453696.2:n.*570A>C
ENST00000560467.2:c.2381A>C ENSP00000453513.2:p.Asp794Ala
ENST00000558518.6:c.2501A>C MANE Select ENSP00000454071.1:p.Asp834Ala
ENST00000252444.9:c.2755A>C
ENST00000455727.6:c.1997A>C ENSP00000397829.2:p.Asp666Ala
ENST00000535915.5:c.2378A>C ENSP00000440520.1:p.Asp793Ala
ENST00000545707.5:c.1967A>C ENSP00000437639.1:p.Asp656Ala
ENST00000557933.5:c.2563A>C ENSP00000453557.1:p.Met855Leu
ENST00000558013.5:c.2501A>C ENSP00000453346.1:p.Asp834Ala
ENST00000558518.5:c.2501A>C ENSP00000454071.1:p.Asp834Ala
ENST00000560628.1:n.108+1970A>C
NM_000527.4:c.2501A>C , LRG_274t1:c.2501A>C NP_000518.1:p.Asp834Ala
NM_001195798.1:c.2501A>C NP_001182727.1:p.Asp834Ala
NM_001195799.1:c.2378A>C NP_001182728.1:p.Asp793Ala
NM_001195800.1:c.1997A>C NP_001182729.1:p.Asp666Ala
NM_001195803.1:c.1967A>C NP_001182732.1:p.Asp656Ala
XM_011528010.1:c.2423A>C XP_011526312.1:p.Asp808Ala
XM_011528011.1:c.2120A>C XP_011526313.1:p.Asp707Ala
XM_011528010.2:c.2423A>C XP_011526312.1:p.Asp808Ala
XR_001753685.2:n.2835A>C
XR_001753686.2:n.2478A>C
NM_000527.5:c.2501A>C MANE Select NP_000518.1:p.Asp834Ala
NM_001195798.2:c.2501A>C NP_001182727.1:p.Asp834Ala
NM_001195799.2:c.2378A>C NP_001182728.1:p.Asp793Ala
NM_001195800.2:c.1997A>C NP_001182729.1:p.Asp666Ala
NM_001195803.2:c.1967A>C NP_001182732.1:p.Asp656Ala