Canonical Allele Identifier: CA404083538
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111573G>T , CM000681.2:g.11111573G>T GRCh38
NC_000019.9:g.11222249G>T , CM000681.1:g.11222249G>T GRCh37
NC_000019.8:g.11083249G>T NCBI36
NG_009060.1:g.27193G>T , LRG_274:g.27193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1378G>T ENSP00000252444.6:p.Gly460Cys
ENST00000559340.2:c.1120G>T ENSP00000453696.2:p.Gly374Cys
ENST00000560467.2:c.1000G>T ENSP00000453513.2:p.Gly334Cys
ENST00000558518.6:c.1120G>T MANE Select ENSP00000454071.1:p.Gly374Cys
ENST00000252444.9:c.1374G>T
ENST00000455727.6:c.616G>T ENSP00000397829.2:p.Gly206Cys
ENST00000535915.5:c.997G>T ENSP00000440520.1:p.Gly333Cys
ENST00000545707.5:c.739G>T ENSP00000437639.1:p.Gly247Cys
ENST00000557933.5:c.1120G>T ENSP00000453557.1:p.Gly374Cys
ENST00000558013.5:c.1120G>T ENSP00000453346.1:p.Gly374Cys
ENST00000558518.5:c.1120G>T ENSP00000454071.1:p.Gly374Cys
ENST00000560173.1:n.119G>T
ENST00000560467.1:c.600G>T
NM_000527.4:c.1120G>T , LRG_274t1:c.1120G>T NP_000518.1:p.Gly374Cys
NM_001195798.1:c.1120G>T NP_001182727.1:p.Gly374Cys
NM_001195799.1:c.997G>T NP_001182728.1:p.Gly333Cys
NM_001195800.1:c.616G>T NP_001182729.1:p.Gly206Cys
NM_001195803.1:c.739G>T NP_001182732.1:p.Gly247Cys
XM_011528010.1:c.1120G>T XP_011526312.1:p.Gly374Cys
XM_011528011.1:c.739G>T XP_011526313.1:p.Gly247Cys
XR_244074.2:n.1270G>T
XM_011528010.2:c.1120G>T XP_011526312.1:p.Gly374Cys
XR_001753685.2:n.1237G>T
XR_001753686.2:n.1237G>T
NM_000527.5:c.1120G>T MANE Select NP_000518.1:p.Gly374Cys
NM_001195798.2:c.1120G>T NP_001182727.1:p.Gly374Cys
NM_001195799.2:c.997G>T NP_001182728.1:p.Gly333Cys
NM_001195800.2:c.616G>T NP_001182729.1:p.Gly206Cys
NM_001195803.2:c.739G>T NP_001182732.1:p.Gly247Cys