Canonical Allele Identifier: CA404089734
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116913G>T , CM000681.2:g.11116913G>T GRCh38
NC_000019.9:g.11227589G>T , CM000681.1:g.11227589G>T GRCh37
NC_000019.8:g.11088589G>T NCBI36
NG_009060.1:g.32533G>T , LRG_274:g.32533G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2018G>T ENSP00000252444.6:p.Ser673Ile
ENST00000559340.2:c.1705+701G>T ENSP00000453696.2:n.1705+701G>T
ENST00000560467.2:c.1640G>T ENSP00000453513.2:p.Ser547Ile
ENST00000558518.6:c.1760G>T MANE Select ENSP00000454071.1:p.Ser587Ile
ENST00000252444.9:c.2014G>T
ENST00000455727.6:c.1256G>T ENSP00000397829.2:p.Ser419Ile
ENST00000535915.5:c.1637G>T ENSP00000440520.1:p.Ser546Ile
ENST00000545707.5:c.1379G>T ENSP00000437639.1:p.Ser460Ile
ENST00000557933.5:c.1760G>T ENSP00000453557.1:p.Ser587Ile
ENST00000558013.5:c.1760G>T ENSP00000453346.1:p.Ser587Ile
ENST00000558518.5:c.1760G>T ENSP00000454071.1:p.Ser587Ile
ENST00000559340.1:c.426+701G>T
NM_000527.4:c.1760G>T , LRG_274t1:c.1760G>T NP_000518.1:p.Ser587Ile
NM_001195798.1:c.1760G>T NP_001182727.1:p.Ser587Ile
NM_001195799.1:c.1637G>T NP_001182728.1:p.Ser546Ile
NM_001195800.1:c.1256G>T NP_001182729.1:p.Ser419Ile
NM_001195803.1:c.1379G>T NP_001182732.1:p.Ser460Ile
XM_011528010.1:c.1760G>T XP_011526312.1:p.Ser587Ile
XM_011528011.1:c.1379G>T XP_011526313.1:p.Ser460Ile
XR_244074.2:n.1855+701G>T
XM_011528010.2:c.1760G>T XP_011526312.1:p.Ser587Ile
XR_001753685.2:n.1877G>T
XR_001753686.2:n.1822+701G>T
NM_000527.5:c.1760G>T MANE Select NP_000518.1:p.Ser587Ile
NM_001195798.2:c.1760G>T NP_001182727.1:p.Ser587Ile
NM_001195799.2:c.1637G>T NP_001182728.1:p.Ser546Ile
NM_001195800.2:c.1256G>T NP_001182729.1:p.Ser419Ile
NM_001195803.2:c.1379G>T NP_001182732.1:p.Ser460Ile