Canonical Allele Identifier: CA16602322
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375807
ClinVar RCV Id: RCV000417313
dbSNP Id: rs879254749

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110696T>C , CM000681.2:g.11110696T>C GRCh38
NC_000019.9:g.11221372T>C , CM000681.1:g.11221372T>C GRCh37
NC_000019.8:g.11082372T>C NCBI36
NG_009060.1:g.26316T>C , LRG_274:g.26316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1243T>C ENSP00000252444.6:p.Cys415Arg
ENST00000559340.2:c.985T>C ENSP00000453696.2:p.Cys329Arg
ENST00000560467.2:c.941-818T>C ENSP00000453513.2:n.941-818T>C
ENST00000558518.6:c.985T>C MANE Select ENSP00000454071.1:p.Cys329Arg
ENST00000252444.9:c.1239T>C
ENST00000455727.6:c.481T>C ENSP00000397829.2:p.Cys161Arg
ENST00000535915.5:c.862T>C ENSP00000440520.1:p.Cys288Arg
ENST00000545707.5:c.604T>C ENSP00000437639.1:p.Cys202Arg
ENST00000557933.5:c.985T>C ENSP00000453557.1:p.Cys329Arg
ENST00000558013.5:c.985T>C ENSP00000453346.1:p.Cys329Arg
ENST00000558518.5:c.985T>C ENSP00000454071.1:p.Cys329Arg
ENST00000560467.1:c.541-818T>C
NM_000527.4:c.985T>C , LRG_274t1:c.985T>C NP_000518.1:p.Cys329Arg
NM_001195798.1:c.985T>C NP_001182727.1:p.Cys329Arg
NM_001195799.1:c.862T>C NP_001182728.1:p.Cys288Arg
NM_001195800.1:c.481T>C NP_001182729.1:p.Cys161Arg
NM_001195803.1:c.604T>C NP_001182732.1:p.Cys202Arg
XM_011528010.1:c.985T>C XP_011526312.1:p.Cys329Arg
XM_011528011.1:c.604T>C XP_011526313.1:p.Cys202Arg
XR_244074.2:n.1135T>C
XM_011528010.2:c.985T>C XP_011526312.1:p.Cys329Arg
XR_001753685.2:n.1102T>C
XR_001753686.2:n.1102T>C
NM_000527.5:c.985T>C MANE Select NP_000518.1:p.Cys329Arg
NM_001195798.2:c.985T>C NP_001182727.1:p.Cys329Arg
NM_001195799.2:c.862T>C NP_001182728.1:p.Cys288Arg
NM_001195800.2:c.481T>C NP_001182729.1:p.Cys161Arg
NM_001195803.2:c.604T>C NP_001182732.1:p.Cys202Arg