Canonical Allele Identifier: CA404076738
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440575
ClinVar RCV Id: RCV000508766
dbSNP Id: rs754933794

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105388T>C , CM000681.2:g.11105388T>C GRCh38
NC_000019.9:g.11216064T>C , CM000681.1:g.11216064T>C GRCh37
NC_000019.8:g.11077064T>C NCBI36
NG_009060.1:g.21008T>C , LRG_274:g.21008T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.740T>C ENSP00000252444.6:p.Ile247Thr
ENST00000559340.2:c.482T>C ENSP00000453696.2:p.Ile161Thr
ENST00000560467.2:c.482T>C ENSP00000453513.2:p.Ile161Thr
ENST00000558518.6:c.482T>C MANE Select ENSP00000454071.1:p.Ile161Thr
ENST00000252444.9:c.736T>C
ENST00000455727.6:c.314-2004T>C ENSP00000397829.2:n.314-2004T>C
ENST00000535915.5:c.359T>C ENSP00000440520.1:p.Ile120Thr
ENST00000545707.5:c.314-1177T>C ENSP00000437639.1:n.314-1177T>C
ENST00000557933.5:c.482T>C ENSP00000453557.1:p.Ile161Thr
ENST00000558013.5:c.482T>C ENSP00000453346.1:p.Ile161Thr
ENST00000558518.5:c.482T>C ENSP00000454071.1:p.Ile161Thr
ENST00000560467.1:c.82T>C
NM_000527.4:c.482T>C , LRG_274t1:c.482T>C NP_000518.1:p.Ile161Thr
NM_001195798.1:c.482T>C NP_001182727.1:p.Ile161Thr
NM_001195799.1:c.359T>C NP_001182728.1:p.Ile120Thr
NM_001195800.1:c.314-2004T>C NP_001182729.1:n.314-2004T>C
NM_001195803.1:c.314-1177T>C NP_001182732.1:n.314-1177T>C
XM_011528010.1:c.482T>C XP_011526312.1:p.Ile161Thr
XM_011528011.1:c.314-1177T>C XP_011526313.1:n.314-1177T>C
XR_244074.2:n.632T>C
XM_011528010.2:c.482T>C XP_011526312.1:p.Ile161Thr
XR_001753685.2:n.599T>C
XR_001753686.2:n.599T>C
NM_000527.5:c.482T>C MANE Select NP_000518.1:p.Ile161Thr
NM_001195798.2:c.482T>C NP_001182727.1:p.Ile161Thr
NM_001195799.2:c.359T>C NP_001182728.1:p.Ile120Thr
NM_001195800.2:c.314-2004T>C NP_001182729.1:n.314-2004T>C
NM_001195803.2:c.314-1177T>C NP_001182732.1:n.314-1177T>C