Canonical Allele Identifier: CA404080822
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107443T>C , CM000681.2:g.11107443T>C GRCh38
NC_000019.9:g.11218119T>C , CM000681.1:g.11218119T>C GRCh37
NC_000019.8:g.11079119T>C NCBI36
NG_009060.1:g.23063T>C , LRG_274:g.23063T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1127T>C ENSP00000252444.6:p.Ile376Thr
ENST00000559340.2:c.869T>C ENSP00000453696.2:p.Ile290Thr
ENST00000560467.2:c.869T>C ENSP00000453513.2:p.Ile290Thr
ENST00000558518.6:c.869T>C MANE Select ENSP00000454071.1:p.Ile290Thr
ENST00000252444.9:c.1123T>C
ENST00000455727.6:c.365T>C ENSP00000397829.2:p.Ile122Thr
ENST00000535915.5:c.746T>C ENSP00000440520.1:p.Ile249Thr
ENST00000545707.5:c.488T>C ENSP00000437639.1:p.Ile163Thr
ENST00000557933.5:c.869T>C ENSP00000453557.1:p.Ile290Thr
ENST00000558013.5:c.869T>C ENSP00000453346.1:p.Ile290Thr
ENST00000558518.5:c.869T>C ENSP00000454071.1:p.Ile290Thr
ENST00000558528.1:n.384T>C
ENST00000560467.1:c.469T>C
NM_000527.4:c.869T>C , LRG_274t1:c.869T>C NP_000518.1:p.Ile290Thr
NM_001195798.1:c.869T>C NP_001182727.1:p.Ile290Thr
NM_001195799.1:c.746T>C NP_001182728.1:p.Ile249Thr
NM_001195800.1:c.365T>C NP_001182729.1:p.Ile122Thr
NM_001195803.1:c.488T>C NP_001182732.1:p.Ile163Thr
XM_011528010.1:c.869T>C XP_011526312.1:p.Ile290Thr
XM_011528011.1:c.488T>C XP_011526313.1:p.Ile163Thr
XR_244074.2:n.1019T>C
XM_011528010.2:c.869T>C XP_011526312.1:p.Ile290Thr
XR_001753685.2:n.986T>C
XR_001753686.2:n.986T>C
NM_000527.5:c.869T>C MANE Select NP_000518.1:p.Ile290Thr
NM_001195798.2:c.869T>C NP_001182727.1:p.Ile290Thr
NM_001195799.2:c.746T>C NP_001182728.1:p.Ile249Thr
NM_001195800.2:c.365T>C NP_001182729.1:p.Ile122Thr
NM_001195803.2:c.488T>C NP_001182732.1:p.Ile163Thr