Canonical Allele Identifier: CA10585830
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252291
dbSNP Id: rs730882114

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128052A>T , CM000681.2:g.11128052A>T GRCh38
NC_000019.9:g.11238728A>T , CM000681.1:g.11238728A>T GRCh37
NC_000019.8:g.11099728A>T NCBI36
NG_009060.1:g.43672A>T , LRG_274:g.43672A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2614A>T ENSP00000252444.6:p.Ser872Cys
ENST00000559340.2:c.*425A>T ENSP00000453696.2:n.*425A>T
ENST00000560467.2:c.2236A>T ENSP00000453513.2:p.Ser746Cys
ENST00000558518.6:c.2356A>T MANE Select ENSP00000454071.1:p.Ser786Cys
ENST00000252444.9:c.2610A>T
ENST00000455727.6:c.1852A>T ENSP00000397829.2:p.Ser618Cys
ENST00000535915.5:c.2233A>T ENSP00000440520.1:p.Ser745Cys
ENST00000545707.5:c.1822A>T ENSP00000437639.1:p.Ser608Cys
ENST00000557933.5:c.2356A>T ENSP00000453557.1:p.Ser786Cys
ENST00000558013.5:c.2356A>T ENSP00000453346.1:p.Ser786Cys
ENST00000558518.5:c.2356A>T ENSP00000454071.1:p.Ser786Cys
ENST00000560628.1:n.108+398A>T
NM_000527.4:c.2356A>T , LRG_274t1:c.2356A>T NP_000518.1:p.Ser786Cys
NM_001195798.1:c.2356A>T NP_001182727.1:p.Ser786Cys
NM_001195799.1:c.2233A>T NP_001182728.1:p.Ser745Cys
NM_001195800.1:c.1852A>T NP_001182729.1:p.Ser618Cys
NM_001195803.1:c.1822A>T NP_001182732.1:p.Ser608Cys
XM_011528010.1:c.2312-1461A>T XP_011526312.1:n.2312-1461A>T
XM_011528011.1:c.1975A>T XP_011526313.1:p.Ser659Cys
XR_244074.2:n.2366A>T
XM_011528010.2:c.2312-1461A>T XP_011526312.1:n.2312-1461A>T
XR_001753685.2:n.2690A>T
XR_001753686.2:n.2333A>T
NM_000527.5:c.2356A>T MANE Select NP_000518.1:p.Ser786Cys
NM_001195798.2:c.2356A>T NP_001182727.1:p.Ser786Cys
NM_001195799.2:c.2233A>T NP_001182728.1:p.Ser745Cys
NM_001195800.2:c.1852A>T NP_001182729.1:p.Ser618Cys
NM_001195803.2:c.1822A>T NP_001182732.1:p.Ser608Cys