Canonical Allele Identifier: CA404089779
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116937G>C , CM000681.2:g.11116937G>C GRCh38
NC_000019.9:g.11227613G>C , CM000681.1:g.11227613G>C GRCh37
NC_000019.8:g.11088613G>C NCBI36
NG_009060.1:g.32557G>C , LRG_274:g.32557G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2042G>C ENSP00000252444.6:p.Arg681Pro
ENST00000559340.2:c.1705+725G>C ENSP00000453696.2:n.1705+725G>C
ENST00000560467.2:c.1664G>C ENSP00000453513.2:p.Arg555Pro
ENST00000558518.6:c.1784G>C MANE Select ENSP00000454071.1:p.Arg595Pro
ENST00000252444.9:c.2038G>C
ENST00000455727.6:c.1280G>C ENSP00000397829.2:p.Arg427Pro
ENST00000535915.5:c.1661G>C ENSP00000440520.1:p.Arg554Pro
ENST00000545707.5:c.1403G>C ENSP00000437639.1:p.Arg468Pro
ENST00000557933.5:c.1784G>C ENSP00000453557.1:p.Arg595Pro
ENST00000558013.5:c.1784G>C ENSP00000453346.1:p.Arg595Pro
ENST00000558518.5:c.1784G>C ENSP00000454071.1:p.Arg595Pro
ENST00000559340.1:c.426+725G>C
NM_000527.4:c.1784G>C , LRG_274t1:c.1784G>C NP_000518.1:p.Arg595Pro
NM_001195798.1:c.1784G>C NP_001182727.1:p.Arg595Pro
NM_001195799.1:c.1661G>C NP_001182728.1:p.Arg554Pro
NM_001195800.1:c.1280G>C NP_001182729.1:p.Arg427Pro
NM_001195803.1:c.1403G>C NP_001182732.1:p.Arg468Pro
XM_011528010.1:c.1784G>C XP_011526312.1:p.Arg595Pro
XM_011528011.1:c.1403G>C XP_011526313.1:p.Arg468Pro
XR_244074.2:n.1855+725G>C
XM_011528010.2:c.1784G>C XP_011526312.1:p.Arg595Pro
XR_001753685.2:n.1901G>C
XR_001753686.2:n.1822+725G>C
NM_000527.5:c.1784G>C MANE Select NP_000518.1:p.Arg595Pro
NM_001195798.2:c.1784G>C NP_001182727.1:p.Arg595Pro
NM_001195799.2:c.1661G>C NP_001182728.1:p.Arg554Pro
NM_001195800.2:c.1280G>C NP_001182729.1:p.Arg427Pro
NM_001195803.2:c.1403G>C NP_001182732.1:p.Arg468Pro