Canonical Allele Identifier: CA404080506
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107398T>C , CM000681.2:g.11107398T>C GRCh38
NC_000019.9:g.11218074T>C , CM000681.1:g.11218074T>C GRCh37
NC_000019.8:g.11079074T>C NCBI36
NG_009060.1:g.23018T>C , LRG_274:g.23018T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1082T>C ENSP00000252444.6:p.Leu361Pro
ENST00000559340.2:c.824T>C ENSP00000453696.2:p.Leu275Pro
ENST00000560467.2:c.824T>C ENSP00000453513.2:p.Leu275Pro
ENST00000558518.6:c.824T>C MANE Select ENSP00000454071.1:p.Leu275Pro
ENST00000252444.9:c.1078T>C
ENST00000455727.6:c.320T>C ENSP00000397829.2:p.Leu107Pro
ENST00000535915.5:c.701T>C ENSP00000440520.1:p.Leu234Pro
ENST00000545707.5:c.443T>C ENSP00000437639.1:p.Leu148Pro
ENST00000557933.5:c.824T>C ENSP00000453557.1:p.Leu275Pro
ENST00000558013.5:c.824T>C ENSP00000453346.1:p.Leu275Pro
ENST00000558518.5:c.824T>C ENSP00000454071.1:p.Leu275Pro
ENST00000558528.1:n.339T>C
ENST00000560467.1:c.424T>C
NM_000527.4:c.824T>C , LRG_274t1:c.824T>C NP_000518.1:p.Leu275Pro
NM_001195798.1:c.824T>C NP_001182727.1:p.Leu275Pro
NM_001195799.1:c.701T>C NP_001182728.1:p.Leu234Pro
NM_001195800.1:c.320T>C NP_001182729.1:p.Leu107Pro
NM_001195803.1:c.443T>C NP_001182732.1:p.Leu148Pro
XM_011528010.1:c.824T>C XP_011526312.1:p.Leu275Pro
XM_011528011.1:c.443T>C XP_011526313.1:p.Leu148Pro
XR_244074.2:n.974T>C
XM_011528010.2:c.824T>C XP_011526312.1:p.Leu275Pro
XR_001753685.2:n.941T>C
XR_001753686.2:n.941T>C
NM_000527.5:c.824T>C MANE Select NP_000518.1:p.Leu275Pro
NM_001195798.2:c.824T>C NP_001182727.1:p.Leu275Pro
NM_001195799.2:c.701T>C NP_001182728.1:p.Leu234Pro
NM_001195800.2:c.320T>C NP_001182729.1:p.Leu107Pro
NM_001195803.2:c.443T>C NP_001182732.1:p.Leu148Pro