Canonical Allele Identifier: CA10576297
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226345
ClinVar RCV Id: RCV000211697
dbSNP Id: rs767767730

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111519G>T , CM000681.2:g.11111519G>T GRCh38
NC_000019.9:g.11222195G>T , CM000681.1:g.11222195G>T GRCh37
NC_000019.8:g.11083195G>T NCBI36
NG_009060.1:g.27139G>T , LRG_274:g.27139G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.6:c.1066G>T MANE Select ENSP00000454071.1:p.Asp356Tyr
ENST00000252444.9:n.1320G>T
ENST00000455727.6:c.562G>T ENSP00000397829.2:p.Asp188Tyr
ENST00000535915.5:c.943G>T ENSP00000440520.1:p.Asp315Tyr
ENST00000545707.5:c.685G>T ENSP00000437639.1:p.Asp229Tyr
ENST00000557933.5:c.1066G>T ENSP00000453557.1:p.Asp356Tyr
ENST00000558013.5:c.1066G>T ENSP00000453346.1:p.Asp356Tyr
ENST00000558518.5:c.1066G>T ENSP00000454071.1:p.Asp356Tyr
ENST00000560173.1:n.65G>T
ENST00000560467.1:n.546G>T
NM_000527.4:c.1066G>T , LRG_274t1:c.1066G>T NP_000518.1:p.Asp356Tyr
NM_001195798.1:c.1066G>T NP_001182727.1:p.Asp356Tyr
NM_001195799.1:c.943G>T NP_001182728.1:p.Asp315Tyr
NM_001195800.1:c.562G>T NP_001182729.1:p.Asp188Tyr
NM_001195803.1:c.685G>T NP_001182732.1:p.Asp229Tyr
XM_011528010.1:c.1066G>T XP_011526312.1:p.Asp356Tyr
XM_011528011.1:c.685G>T XP_011526313.1:p.Asp229Tyr
XR_244074.2:n.1216G>T
XM_011528010.2:c.1066G>T XP_011526312.1:p.Asp356Tyr
XR_001753685.2:n.1183G>T
XR_001753686.2:n.1183G>T
NM_000527.5:c.1066G>T MANE Select NP_000518.1:p.Asp356Tyr
NM_001195798.2:c.1066G>T NP_001182727.1:p.Asp356Tyr
NM_001195799.2:c.943G>T NP_001182728.1:p.Asp315Tyr
NM_001195800.2:c.562G>T NP_001182729.1:p.Asp188Tyr
NM_001195803.2:c.685G>T NP_001182732.1:p.Asp229Tyr